Gene Detail

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Variant	Impact	Protein Effect	Variant Description
P50L	missense	unknown	GATA1 P50L lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). P50L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G368C	missense	unknown	GATA1 G368C does not lie within any known functional domains of the Gata1 protein (UniProt.org). G368C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G89fs	frameshift	loss of function - predicted	GATA1 G89fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 89 of 413, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the zinc finger domains required for Gata1 function (PMID: 15684376), G89fs is predicted to lead to a loss of Gata1 protein function.
P159H	missense	unknown	GATA1 P159H does not lie within any known functional domains of the Gata1 protein (UniProt.org). P159H has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
T176I	missense	unknown	GATA1 T176I does not lie within any known functional domains of the Gata1 protein (UniProt.org). T176I has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R113H	missense	unknown	GATA1 R113H does not lie within any known functional domains of the Gata1 protein (UniProt.org). R113H has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
A120S	missense	unknown	GATA1 A120S does not lie within any known functional domains of the Mlh1 protein (UniProt.org). A120S has not been characterized and therefore, its effect on Mlh1 protein function is unknown (PubMed, Aug 2018).
Q76E	missense	unknown	GATA1 Q76E lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). Q76E has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
A55T	missense	unknown	GATA1 A55T lies within the N-terminal transactivation domain of the Gata1 protein (PMID: 15684376). A55T has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
S187F	missense	unknown	GATA1 S187F does lie within any known functional domains of the Gata1 protein (UniProt.org). S187F has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G340fs	frameshift	unknown	GATA1 G340fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 340 of 413, likely resulting in premature truncation of the functional protein (UniProt.org). G340fs has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G344R	missense	unknown	GATA1 G344R does not lie within any known functional domains of the Gata1 protein (UniProt.org). G344R has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
T130N	missense	unknown	GATA1 T130N does lie within any known functional domains of the Gata1 protein (UniProt.org). T130N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
D115N	missense	unknown	GATA1 D115N does not lie within any known functional domains of the Gata1 protein (UniProt.org). D115N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
E13K	missense	unknown	GATA1 E13K lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). E13K has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G366D	missense	unknown	GATA1 G366D does not lie within any known functional domains of the Gata1 protein (UniProt.org). G366D has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G90Afs*47	frameshift	loss of function - predicted	GATA1 G90Afs47 indicates a shift in the reading frame starting at amino acid 90 and terminating 47 residues downstream causing a premature truncation of the 413 amino acid Gata1 protein (UniProt.org). Due to the loss of the zinc finger domains required for Gata1 function (PMID: 15684376), G90Afs47 is predicted to lead to a loss of Gata1 protein function.
W96R	missense	unknown	GATA1 W96R does not lie within any known functional domains of the Gata1 protein (UniProt.org). W96R has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R216Q	missense	unknown	GATA1 R216Q lies within the GATA-type 1 zinc finger domain of the Gata1 protein (UniProt.org). R216Q results in minor changes in DNA dissociation rate and gene expression regulation, but is able to support erythroid maturation to similar level of wild-type Gata1 in culture (PMID: 12200364).
T54N	missense	unknown	GATA1 T54N lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). T54N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
L321V	missense	unknown	GATA1 L321V does not lie within any known functional domains of the Gata1 protein (UniProt.org). L321V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R307C	missense	unknown	GATA1 R307C does not lie within any known functional domains of the Gata1 protein (UniProt.org). R307C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
A120V	missense	unknown	GATA1 A120V does not lie within any known functional domains of the GATA1 protein (UniProt.org). A120V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
M1?	missense	loss of function - predicted	GATA1 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Gata1 protein. M1? has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
E114K	missense	unknown	GATA1 E114K does not lie within any known functional domains of the GATA1 protein (UniProt.org). E114K has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R140W	missense	unknown	GATA1 R140W does not lie within any known functional domains of the Gata1 protein (UniProt.org). R140W has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
E328K	missense	unknown	GATA1 E328K does not lie within any known functional domains of the Gata1 protein (UniProt.org). E328K has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R298W	missense	unknown	GATA1 R298W does lie within any known functional domains of the Gata1 protein (UniProt.org). R298W has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
Q76*	nonsense	loss of function - predicted	GATA1 Q76* results in a premature truncation of the Gata1 protein at amino acid 76 of 413 (UniProt.org). Due to the loss of the zinc finger regions (UniProt.org), Q76* is predicted to lead to a loss of Gata1 protein function.
T263M	missense	no effect	GATA1 T263M lies within the GATA-type 2 zinc finger region of the Gata1 protein (UniProt.org). T263M demonstrates cellular localization and phosphorylation similar to wild-type Gata1 protein in culture (Blood 2013 122(21):3668) and therefore, has no effect on Gata1 protein function.
E2K	missense	unknown	GATA1 E2K lies within the N-terminal transactivation domain of the Gata1 protein (PMID: 15684376). E2K as not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
over exp	unknown	no effect	GATA1 over exp indicates an over expression of the Gata1 protein. However, the mechanism causing the over expression is unspecified.
G5V	missense	unknown	GATA1 G5V lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). G5V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R247C	missense	unknown	GATA1 R247C does not lie within any known functional domains of the Gata1 protein (UniProt.org). R247C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
S310Y	missense	unknown	GATA S310Y lies within the CALCOCO1-interacting region of the Gata1 protein (UniProt.org). S310Y has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
N226D	missense	unknown	GATA1 N226D lies within the GATA-type 1 zinc finger domain of the Gata1 protein (UniProt.org). N226D has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
P150H	missense	unknown	GATA1 P150H does not lie within any known functional domains of the Gata1 protein (UniProt.org). P150H has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
S129R	missense	unknown	GATA1 S129R does lie within any known functional domains of the Gata1 protein (UniProt.org). S129R has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
Q303*	nonsense	unknown	GATA1 Q303* results in a premature truncation of the Gata1 protein at amino acid 303 of 413 (UniProt.org). Q303* has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
Q76H	missense	unknown	GATA1 Q76H lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). Q76H has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
E2Vfs*37	frameshift	loss of function - predicted	GATA1 E2Vfs37 indicates a shift in the reading frame starting at amino acid 2 and terminating 37 residues downstream causing a premature truncation of the 413 amino acid Gata1 protein (UniProt.org). Due to the loss of all known functional domains (PMID: 15684376), E2Vfs37 is predicted to lead to a loss of Gata1 protein function.
K312Q	missense	unknown	GATA1 K312Q does not lie within any known functional domains of the Gata1 protein (UniProt.org). K312Q has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
S30*	nonsense	loss of function - predicted	GATA1 S30* results in a premature truncation of the Gata1 protein at amino acid 30 of 413 (UniProt.org). Due to the loss of most known functional domains (UniProt.org), S30* is predicted to lead to a loss of Gata1 protein function.
A227T	missense	unknown	GATA1 A227T lies within the GATA-type 1 zinc finger domain of the Gata1 protein (UniProt.org). A227T has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
P166T	missense	unknown	GATA1 P166T does not lie within any known functional domains of the Gata1 protein (UniProt.org). P166T has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, May 2016).
P401L	missense	unknown	GATA1 P401L does not lie within any known functional domains of the Gata1 protein (UniProt.org). P401L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
P357S	missense	unknown	GATA1 P357S does not lie within any known functional domains of the Gata1 protein (UniProt.org). P357S has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2016).
D42N	missense	unknown	GATA1 D42N lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). D42N has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
mutant	unknown	unknown	GATA1 mutant indicates an unspecified mutation in the GATA1 gene.
E2fs	frameshift	loss of function - predicted	GATA1 E2fs results in a change in the amino acid sequence of the Gata1 protein beginning at aa 2 of 413, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E2fs is predicted to lead to a loss of Gata1 protein function.
R253Q	missense	unknown	GATA1 R253Q does not lie within any known functional domains of the Gata1 protein (UniProt.org). R253Q has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
P358Qfs*74	frameshift	unknown	GATA1 P358Qfs74 indicates a shift in the reading frame starting at amino acid 358 and terminating 74 residues downstream causing a premature truncation of the 413 amino acid Gata1 protein (UniProt.org). P358Qfs74 has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
F172L	missense	unknown	GATA1 F172L does not lie within any known functional domains of the Gata1 protein (UniProt.org). F172L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R270W	missense	unknown	GATA1 R270W lies within the GATA-type 2 zinc finger region of the Gata1 protein (UniProt.org). R270W has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
A211V	missense	unknown	GATA1 A211V lies within the GATA-type 1 zinc finger domain of the Gata1 protein (UniProt.org). A211V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
T266M	missense	unknown	GATA1 T266M lies within the GATA-type 2 zinc finger region of the Gata1 protein (UniProt.org). T266M has not been characterized and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
P401S	missense	unknown	GATA1 P401S does not lie within any known functional domains of the Gata1 protein (UniProt.org). P401S has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R305*	nonsense	unknown	GATA1 R305* results in a premature truncation of the Gata1 protein at amino acid 305 of 413 (UniProt.org). R305* has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
V278M	missense	unknown	GATA1 V278M lies within the GATA-type 2 zinc finger region of the Gata1 protein (UniProt.org). V278M has been identified in sequencing studies (PMID: 22895193), but has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
C279F	missense	unknown	GATA1 C279F lies within the GATA-type 2 zinc finger domain of the Gata1 protein (UniProt.org). C279F has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
T391M	missense	unknown	GATA1 T391M does not lie within any known functional domains of the Gata1 protein (UniProt.org). T391M has not been chracerized and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
wild-type	none	no effect	Wild-type GATA1 indicates that no mutation has been detected within the GATA1 gene.
S116C	missense	unknown	GATA1 S116C does lie within any known functional domains of the Gata1 protein (UniProt.org). S116C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G366C	missense	unknown	GATA1 G366C does not lie within any known functional domains of the Gata1 protein (UniProt.org). G366C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R307H	missense	unknown	GATA1 R307H does not lie within any known functional domains of the Gata1 protein (UniProt.org). R307H has been identified in the scientific literature (Blood 2016 128(22):400), but has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
D20V	missense	unknown	GATA1 D20V lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). D20V has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
Y98*	nonsense	loss of function - predicted	GATA1 Y98* results in a premature truncation of the Gata1 protein at amino acid 98 of 413 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Y98* is predicted to lead to a loss of Gata1 protein function.
R307L	missense	unknown	GATA1 R307L does not lie within any known functional domains of the Gata1 protein (UniProt.org). R307L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
G340S	missense	unknown	GATA1 G340S does not lie within any known functional domains of the Gata1 protein (UniProt.org). G340S has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
F33L	missense	unknown	GATA1 F33L lies within the transcriptional activation domain of the Gata1 protein (PMID: 22556427). F33L has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).
R113C	missense	unknown	GATA1 R113C does not lie within any known functional domains of the Gata1 protein (UniProt.org). R113C has not been characterized in the scientific literature and therefore, its effect on Gata1 protein function is unknown (PubMed, Aug 2018).

Molecular Profile	Protein Effect	Treatment Approaches
GATA1 P50L	unknown
GATA1 G368C	unknown
GATA1 G89fs	loss of function - predicted
GATA1 P159H	unknown
GATA1 T176I	unknown
GATA1 R113H	unknown
GATA1 A120S	unknown
GATA1 Q76E	unknown
GATA1 A55T	unknown
GATA1 S187F	unknown
GATA1 G340fs	unknown
GATA1 G344R	unknown
GATA1 T130N	unknown
GATA1 D115N	unknown
GATA1 E13K	unknown
GATA1 G366D	unknown
GATA1 G90Afs*47	loss of function - predicted
GATA1 W96R	unknown
GATA1 R216Q	unknown
GATA1 T54N	unknown
GATA1 L321V	unknown
GATA1 R307C	unknown
GATA1 A120V	unknown
GATA1 M1?	loss of function - predicted
GATA1 E114K	unknown
GATA1 R140W	unknown
GATA1 E328K	unknown
GATA1 R298W	unknown
GATA1 Q76*	loss of function - predicted
GATA1 T263M	no effect
GATA1 E2K	unknown
GATA1 over exp	no effect
GATA1 G5V	unknown
GATA1 R247C	unknown
GATA1 S310Y	unknown
GATA1 N226D	unknown
GATA1 P150H	unknown
GATA1 S129R	unknown
GATA1 Q303*	unknown
GATA1 Q76H	unknown
GATA1 E2Vfs*37	loss of function - predicted
GATA1 K312Q	unknown
GATA1 S30*	loss of function - predicted
GATA1 A227T	unknown
GATA1 P166T	unknown
GATA1 P401L	unknown
GATA1 P357S	unknown
GATA1 D42N	unknown
GATA1 mutant	unknown
GATA1 E2fs	loss of function - predicted
GATA1 R253Q	unknown
GATA1 P358Qfs*74	unknown
GATA1 F172L	unknown
GATA1 R270W	unknown
GATA1 A211V	unknown
GATA1 T266M	unknown
GATA1 P401S	unknown
GATA1 R305*	unknown
GATA1 V278M	unknown
GATA1 C279F	unknown
GATA1 T391M	unknown
GATA1 wild-type	no effect
GATA1 S116C	unknown
GATA1 G366C	unknown
GATA1 R307H	unknown
GATA1 D20V	unknown
GATA1 Y98*	loss of function - predicted
GATA1 R307L	unknown
GATA1 G340S	unknown
GATA1 F33L	unknown
GATA1 R113C	unknown

Molecular Profile	Indication/Tumor Type	Response Type	Therapy Name	Approval Status	Evidence Type	Efficacy Evidence	References
GATA1 over exp	megakaryocytic leukemia	decreased response	Cytarabine	Preclinical - Cell culture	Actionable	In a preclinical study, high expression of GATA1 was associated with decreased sensitivity to Cytosar-U (cytarabine) in an non-Down Syndrome megakaryocytic leukemia cell line in culture (PMID: 23874683).	23874683
GATA1 over exp	megakaryocytic leukemia	decreased response	Daunorubicin	Preclinical - Cell culture	Actionable	In a preclinical study, high expression of GATA1 was associated with decreased sensitivity to Cerubidine (daunorubicin) in a non-Down Syndrome megakaryocytic leukemia cell line in culture (PMID: 23874683).	23874683
GATA1 mutant	megakaryocytic leukemia	not applicable	N/A	Clinical Study	Diagnostic	GATA1 mutations are used in the diagnosis of Down Syndrome related acute megakaryoblastic leukemia (PMID: 25266042, PMID: 14636651, PMID: 12586620).	14636651 12586620 25266042

Gene Symbol	GATA1
Synonyms	ERYF1 \| GATA-1 \| GF-1 \| GF1 \| NF-E1 \| NFE1 \| XLANP \| XLTDA \| XLTT
Gene Description	GATA1, GATA binding protein 1, is a transcriptional activator or repressor, which plays a role in erythroid development. GATA1 mutations are associated with Down Syndrome preleukemia and leukemia (PMID: 25435116; PMID: 24880866).
Entrez Id	2623
Chromosome	X
Map Location	Xp11.23
Canonical Transcript	NM_002049