GATA1 (GATA binding protein 1) - Rat Genome Database
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Gene: GATA1 (GATA binding protein 1) Homo sapiens
Analyze
Symbol: GATA1
Name: GATA binding protein 1
RGD ID: 731384
HGNC Page HGNC
Description: Exhibits several functions, including C2H2 zinc finger domain binding activity; DNA binding activity; and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in several processes, including myeloid cell differentiation; regulation of cellular macromolecule biosynthetic process; and regulation of erythrocyte differentiation. Localizes to nucleoplasm; protein-DNA complex; and transcription repressor complex. Implicated in Down syndrome; X-linked recessive disease (multiple); beta thalassemia; and hematologic cancer (multiple). Biomarker of acute myeloid leukemia; major depressive disorder; myelodysplastic syndrome; and myelofibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ERYF1; erythroid transcription factor; erythroid transcription factor 1; GATA binding protein 1 (globin transcription factor 1); GATA-1; GATA-binding factor 1; GF-1; GF1; globin transcription factor 1; NF-E1; NF-E1 DNA-binding protein; NFE1; nuclear factor, erythroid 1; transcription factor GATA1; XLANP; XLTDA; XLTT
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,786,554 - 48,794,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX48,786,562 - 48,794,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,786,590 - 48,794,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,644,998 - 48,652,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,529,906 - 48,537,662 (+)NCBINCBI36hg18NCBI36
Build 34X48,401,209 - 48,408,964NCBI
CeleraX53,010,810 - 53,018,547 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,304,230 - 46,311,086 (+)NCBIHuRef
CHM1_1X48,676,125 - 48,683,862 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ regeneration  (ISO)
basophil differentiation  (IEA,IEP)
blood coagulation  (TAS)
cell development  (ISO)
cell fate commitment  (IBA)
cell-cell signaling  (IEA,ISO)
cellular response to cAMP  (ISO)
cellular response to follicle-stimulating hormone stimulus  (ISO)
cellular response to lipopolysaccharide  (ISO)
cellular response to thyroid hormone stimulus  (IDA)
dendritic cell differentiation  (IEA,ISO)
embryonic hemopoiesis  (IEA,ISO)
eosinophil differentiation  (IEA,IEP)
eosinophil fate commitment  (IDA)
erythrocyte development  (IEA,IMP)
erythrocyte differentiation  (IEP,ISO)
homeostasis of number of cells within a tissue  (IEA,ISO)
in utero embryonic development  (IEA,ISO)
male gonad development  (IMP)
megakaryocyte differentiation  (IEA,IMP,ISO)
myeloid cell differentiation  (ISO)
negative regulation of apoptotic process  (IMP,ISO)
negative regulation of bone mineralization  (IEA,ISO)
negative regulation of cell population proliferation  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  (IMP)
negative regulation of transcription by RNA polymerase II  (IBA,IDA,ISO)
negative regulation of transcription regulatory region DNA binding  (IDA)
platelet aggregation  (IMP,ISO)
platelet formation  (IMP,ISO)
positive regulation of cytosolic calcium ion concentration  (ISO)
positive regulation of erythrocyte differentiation  (IMP)
positive regulation of mast cell degranulation  (ISO)
positive regulation of osteoblast proliferation  (IEA,ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IMP,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IMP,ISO)
positive regulation of transcription, DNA-templated  (IDA,ISO)
regulation of definitive erythrocyte differentiation  (IDA,ISO)
regulation of glycoprotein biosynthetic process  (IMP,ISO)
regulation of hematopoietic stem cell differentiation  (TAS)
regulation of megakaryocyte differentiation  (TAS)
regulation of primitive erythrocyte differentiation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA,IEA)
Sertoli cell development  (ISO)
transcriptional activation by promoter-enhancer looping  (IEA,ISO)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal circulating porphyrin concentration  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal granulocytopoietic cell morphology  (IAGP)
Abnormal hemoglobin  (IAGP)
Abnormal lactate dehydrogenase level  (IAGP)
Abnormal megakaryocyte morphology  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal platelet morphology  (IAGP)
Abnormal reticulocyte morphology  (IAGP)
Abnormal urinary color  (IAGP)
Abnormality of multiple cell lineages in the bone marrow  (IAGP)
Abnormality of skin pigmentation  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the thenar eminence  (IAGP)
Absent thumb  (IAGP)
Acanthocytosis  (IAGP)
Acute megakaryocytic leukemia  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Aganglionic megacolon  (IAGP)
Alzheimer disease  (IAGP)
Anal atresia  (IAGP)
Anemia  (IAGP)
Anemia of inadequate production  (IAGP)
Anisocytosis  (IAGP)
Atlantoaxial instability  (IAGP)
Atrial septal defect  (IAGP)
Atypical scarring of skin  (IAGP)
Blepharitis  (IAGP)
Brachycephaly  (IAGP)
Broad palm  (IAGP)
Bruising susceptibility  (IAGP)
Brushfield spots  (IAGP)
Cleft lip  (IAGP)
Cleft soft palate  (IAGP)
Coarctation of aorta  (IAGP)
Complete atrioventricular canal defect  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital thrombocytopenia  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous photosensitivity  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Duodenal stenosis  (IAGP)
Ectropion  (IAGP)
Elevated red cell adenosine deaminase level  (IAGP)
Elliptocytosis  (IAGP)
Epicanthus  (IAGP)
Epistaxis  (IAGP)
Erythroid hypoplasia  (IAGP)
Flat face  (IAGP)
Hemolytic anemia  (IAGP)
High palate  (IAGP)
Hirsutism  (IAGP)
Horseshoe kidney  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypochromic anemia  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Hypotonia  (IAGP)
Immunodeficiency  (IAGP)
Impaired platelet aggregation  (IAGP)
Increased hemoglobin  (IAGP)
Increased mean corpuscular volume  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Joint laxity  (IAGP)
Keratoconjunctivitis  (IAGP)
Lethargy  (IAGP)
Leukopenia  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocytic anemia  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Macroglossia  (IAGP)
Macrothrombocytopenia  (IAGP)
Malar flattening  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Myelodysplasia  (IAGP)
Myeloproliferative disorder  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Normochromic anemia  (IAGP)
Osteopenia  (IAGP)
Osteosarcoma  (IAGP)
Pallor  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Persistence of hemoglobin F  (IAGP)
Persistent bleeding after trauma  (IAGP)
Petechiae  (IAGP)
Poikilocytosis  (IAGP)
Prolonged bleeding time  (IAGP)
Protruding tongue  (IAGP)
Ptosis  (IAGP)
Pure red cell aplasia  (IAGP)
Radial artery aplasia  (IAGP)
Recurrent corneal erosions  (IAGP)
Recurrent fractures  (IAGP)
Recurrent skin infections  (IAGP)
Renal agenesis  (IAGP)
Reticulocytopenia  (IAGP)
Reticulocytosis  (IAGP)
Shallow acetabular fossae  (IAGP)
Short middle phalanx of the 5th finger  (IAGP)
Short neck  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Single transverse palmar crease  (IAGP)
Small for gestational age  (IAGP)
Splenomegaly  (IAGP)
Sporadic  (IAGP)
Sprengel anomaly  (IAGP)
Strabismus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Thickened skin  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Triphalangeal thumb  (IAGP)
Upslanted palpebral fissure  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
1. Birger Y, etal., Blood. 2013 Aug 8;122(6):988-98. doi: 10.1182/blood-2012-10-460998. Epub 2013 May 29.
2. Fadilah SA, etal., Leukemia. 2002 Aug;16(8):1563-5.
3. Freson K, etal., Blood. 2001 Jul 1;98(1):85-92.
4. GOA_HUMAN data from the GO Consortium
5. Greene ME, etal., Blood Cells Mol Dis. 2003 Nov-Dec;31(3):351-6.
6. Kang HJ, etal., Nat Med. 2012 Aug 12. doi: 10.1038/nm.2886.
7. Li JP, etal., Zhonghua Xue Ye Xue Za Zhi. 2007 Aug;28(8):537-40.
8. Liu YM, etal., Zhong Xi Yi Jie He Xue Bao. 2006 May;4(3):247-50.
9. Majewski IJ, etal., Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14146-51. Epub 2006 Sep 11.
10. Maratheftis CI, etal., Am J Hematol. 2007 Oct;82(10):887-92.
11. Mehaffey MG, etal., Blood. 2001 Nov 1;98(9):2681-8.
12. Nichols KE, etal., Nat Genet. 2000 Mar;24(3):266-70.
13. OMIM Disease Annotation Pipeline
14. Online Mendelian Inheritance in Man, OMIM (TM).
15. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. RGD automated import pipeline for gene-chemical interactions
17. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Shimamoto T, etal., Blood. 1995 Oct 15;86(8):3173-80.
19. Shimizu R, etal., Mol Cell Biol. 2004 Dec;24(24):10814-25.
20. Vannucchi AM, etal., Am J Pathol. 2005 Sep;167(3):849-58.
21. Vannucchi AM, etal., Blood. 2002 Aug 15;100(4):1123-32.
22. Vannucchi AM, etal., Blood. 2005 May 1;105(9):3493-501. Epub 2005 Jan 21.
23. Yu C, etal., Blood. 2002 Sep 15;100(6):2040-5.
Additional References at PubMed
PMID:1999341   PMID:2104960   PMID:2300555   PMID:2467208   PMID:7568177   PMID:7678994   PMID:8507862   PMID:8628290   PMID:9209374   PMID:9230307   PMID:10364157   PMID:10438528  
PMID:11018012   PMID:11724781   PMID:11809723   PMID:11867225   PMID:12045236   PMID:12172547   PMID:12196550   PMID:12202480   PMID:12239153   PMID:12242665   PMID:12359731   PMID:12432220  
PMID:12477932   PMID:12483298   PMID:12489695   PMID:12490288   PMID:12496368   PMID:12556498   PMID:12560215   PMID:12576332   PMID:12586620   PMID:12609092   PMID:12649131   PMID:12724402  
PMID:12767938   PMID:12816863   PMID:12857954   PMID:14512321   PMID:14623254   PMID:14656875   PMID:14668799   PMID:14691578   PMID:14744791   PMID:14966463   PMID:15123623   PMID:15136229  
PMID:15226423   PMID:15265794   PMID:15314183   PMID:15489334   PMID:15542823   PMID:15563463   PMID:15613485   PMID:15644435   PMID:15673499   PMID:15684376   PMID:15701726   PMID:15772651  
PMID:15895080   PMID:15920471   PMID:15967790   PMID:16012335   PMID:16107690   PMID:16186125   PMID:16225938   PMID:16249385   PMID:16407974   PMID:16543218   PMID:16607277   PMID:16628190  
PMID:16631833   PMID:16648487   PMID:16840187   PMID:16861236   PMID:17132730   PMID:17148589   PMID:17167422   PMID:17196618   PMID:17332341   PMID:17408401   PMID:17420275   PMID:17538848  
PMID:17576817   PMID:17654061   PMID:17713552   PMID:17763153   PMID:17881640   PMID:18029348   PMID:18059480   PMID:18191920   PMID:18206727   PMID:18443038   PMID:18586828   PMID:18599389  
PMID:18689547   PMID:18714007   PMID:18780834   PMID:18793746   PMID:18930124   PMID:18979367   PMID:19049973   PMID:19097174   PMID:19114560   PMID:19172521   PMID:19204726   PMID:19212333  
PMID:19274049   PMID:19351817   PMID:19375645   PMID:19411634   PMID:19437340   PMID:19447160   PMID:19453261   PMID:19509292   PMID:19513100   PMID:19522008   PMID:19556247   PMID:19633202  
PMID:19654328   PMID:19721012   PMID:19825991   PMID:19850750   PMID:19924028   PMID:19941826   PMID:19965638   PMID:20064153   PMID:20101202   PMID:20133935   PMID:20143233   PMID:20211142  
PMID:20301538   PMID:20301769   PMID:20339093   PMID:20398657   PMID:20410505   PMID:20418238   PMID:20495378   PMID:20554972   PMID:20586925   PMID:20679399   PMID:20729467   PMID:20807505  
PMID:20870473   PMID:20922527   PMID:21041734   PMID:21205752   PMID:21210118   PMID:21248262   PMID:21287369   PMID:21289305   PMID:21304100   PMID:21464046   PMID:21532337   PMID:21555453  
PMID:21571218   PMID:21609963   PMID:21715302   PMID:21873635   PMID:21900206   PMID:21967505   PMID:21988832   PMID:22020876   PMID:22050843   PMID:22102271   PMID:22110660   PMID:22160620  
PMID:22164220   PMID:22235304   PMID:22426104   PMID:22513796   PMID:22706301   PMID:22853316   PMID:23127762   PMID:23208504   PMID:23278136   PMID:23380710   PMID:23426981   PMID:23440243  
PMID:23704091   PMID:23874683   PMID:24021668   PMID:24027798   PMID:24196768   PMID:24222239   PMID:24245781   PMID:24253371   PMID:24255919   PMID:24336126   PMID:24369834   PMID:24407241  
PMID:24453067   PMID:24579914   PMID:24594363   PMID:24608802   PMID:24639354   PMID:24705354   PMID:24722188   PMID:24740910   PMID:24746204   PMID:24766296   PMID:24880866   PMID:24952347  
PMID:24952648   PMID:25230694   PMID:25251786   PMID:25268193   PMID:25270909   PMID:25340772   PMID:25416956   PMID:25528728   PMID:25621499   PMID:25682601   PMID:25711269   PMID:25726523  
PMID:25755285   PMID:25814554   PMID:25910212   PMID:26019275   PMID:26186194   PMID:26205501   PMID:26234152   PMID:26439305   PMID:26713410   PMID:26766440   PMID:26848522   PMID:27010793  
PMID:27044088   PMID:27052461   PMID:27107012   PMID:27134169   PMID:27215385   PMID:27342114   PMID:27353457   PMID:27485543   PMID:27667142   PMID:27821551   PMID:28082341   PMID:28161276  
PMID:28179280   PMID:28240607   PMID:28473536   PMID:28514442   PMID:28550189   PMID:28553927   PMID:28566697   PMID:29400094   PMID:29567780   PMID:29949202   PMID:30503262   PMID:30530752  
PMID:30617196   PMID:30700418   PMID:30755706   PMID:30825517   PMID:30872372   PMID:30889303   PMID:30914438   PMID:31049966   PMID:31069596   PMID:31264779   PMID:31652397   PMID:31865264  
PMID:31897811   PMID:31930127   PMID:32296183   PMID:32533074   PMID:32759740   PMID:32851429   PMID:32911434  


Genomics

Comparative Map Data
GATA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,786,554 - 48,794,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX48,786,562 - 48,794,311 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,786,590 - 48,794,311 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,644,998 - 48,652,718 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,529,906 - 48,537,662 (+)NCBINCBI36hg18NCBI36
Build 34X48,401,209 - 48,408,964NCBI
CeleraX53,010,810 - 53,018,547 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,304,230 - 46,311,086 (+)NCBIHuRef
CHM1_1X48,676,125 - 48,683,862 (+)NCBICHM1_1
Gata1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,825,499 - 7,842,902 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,825,499 - 7,844,310 (-)Ensembl
GRCm38X7,959,260 - 7,976,663 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,959,260 - 7,978,071 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,536,386 - 7,544,941 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X7,116,219 - 7,124,774 (-)NCBImm8
CeleraX3,501,753 - 3,509,992 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.59NCBI
Gata1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,529,706 - 14,537,530 (+)NCBI
Rnor_6.0 EnsemblX15,378,789 - 15,382,066 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,273,937 - 15,281,759 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,054,178 - 16,062,000 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,564,259 - 26,572,081 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X26,617,727 - 26,625,550 (+)NCBI
CeleraX14,614,331 - 14,622,295 (+)NCBICelera
Cytogenetic MapXq12NCBI
Gata1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543334,061 - 342,061 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955543334,581 - 342,042 (+)NCBIChiLan1.0ChiLan1.0
GATA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,945,394 - 48,953,126 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,945,394 - 48,953,126 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X41,088,724 - 41,092,190 (+)NCBIMhudiblu_PPA_v0panPan3
GATA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 EnsemblX41,971,582 - 41,998,303 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1X41,991,321 - 41,998,319 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Gata1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936721742,862 - 750,843 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GATA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,898,442 - 42,905,976 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,898,431 - 42,905,939 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,745,326 - 47,752,876 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GATA1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,912,638 - 45,920,415 (+)NCBI
ChlSab1.1 EnsemblX45,917,231 - 45,920,268 (+)Ensembl
Gata1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893595,948 - 602,980 (+)NCBI

Position Markers
RH47645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,646,182 - 48,646,321UniSTSGRCh37
Build 36X48,531,126 - 48,531,265RGDNCBI36
CeleraX53,017,208 - 53,017,347RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,305,430 - 46,305,569UniSTS
GeneMap99-GB4 RH MapX142.73UniSTS
NCBI RH MapX197.4UniSTS
PMC20354P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,650,265 - 48,650,513UniSTSGRCh37
Build 36X48,535,209 - 48,535,457RGDNCBI36
CeleraX53,013,015 - 53,013,263RGD
Cytogenetic MapXp11.23UniSTS
GATA1_1983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,652,222 - 48,652,910UniSTSGRCh37
Build 36X48,537,166 - 48,537,854RGDNCBI36
CeleraX53,010,618 - 53,011,306RGD
DXS9855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,652,576 - 48,652,687UniSTSGRCh37
Build 36X48,537,520 - 48,537,631RGDNCBI36
CeleraX53,010,841 - 53,010,952RGD
Cytogenetic MapXp11.23UniSTS
DXS9874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,649,939 - 48,650,110UniSTSGRCh37
Build 36X48,534,883 - 48,535,054RGDNCBI36
CeleraX53,013,418 - 53,013,589RGD
HuRefX46,309,307 - 46,309,478UniSTS
STS-X17254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,652,451 - 48,652,649UniSTSGRCh37
Build 36X48,537,395 - 48,537,593RGDNCBI36
CeleraX53,010,879 - 53,011,077RGD
Cytogenetic MapXp11.23UniSTS
GeneMap99-GB4 RH MapX141.19UniSTS
NCBI RH MapX198.6UniSTS
GDB:192497  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
GDB:574073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,651,579 - 48,652,340UniSTSGRCh37
CeleraX53,011,188 - 53,011,949UniSTS
Cytogenetic MapXp11.23UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:412
Count of miRNA genes:361
Interacting mature miRNAs:390
Transcripts:ENST00000376665, ENST00000376670
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 1 683 14 14 719 14 2 7 22 1
Low 1010 235 407 55 514 28 1178 582 613 82 749 745 29 1 507 658 1
Below cutoff 1272 1760 1103 441 309 312 2657 1266 2818 234 560 665 135 687 1779 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376665   ⟹   ENSP00000365853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,786,573 - 48,794,311 (+)Ensembl
RefSeq Acc Id: ENST00000376670   ⟹   ENSP00000365858
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,786,590 - 48,794,311 (+)Ensembl
RefSeq Acc Id: ENST00000651144   ⟹   ENSP00000498550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,786,562 - 48,794,297 (+)Ensembl
RefSeq Acc Id: NM_002049   ⟹   NP_002040
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,786,590 - 48,794,311 (+)NCBI
GRCh37X48,644,982 - 48,652,718 (+)ENTREZGENE
Build 36X48,529,906 - 48,537,662 (+)NCBI Archive
HuRefX46,304,230 - 46,311,086 (+)ENTREZGENE
CHM1_1X48,676,125 - 48,683,862 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002040   ⟸   NM_002049
- UniProtKB: P15976 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000365853   ⟸   ENST00000376665
RefSeq Acc Id: ENSP00000365858   ⟸   ENST00000376670
RefSeq Acc Id: ENSP00000498550   ⟸   ENST00000651144
Protein Domains
GATA-type

Promoters
RGD ID:6808697
Promoter ID:HG_KWN:66703
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000376665,   ENST00000376670
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,529,336 - 48,529,987 (+)MPROMDB
RGD ID:6808871
Promoter ID:HG_KWN:66704
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000056519
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,535,736 - 48,536,236 (+)MPROMDB
RGD ID:13605244
Promoter ID:EPDNEW_H28806
Type:initiation region
Name:GATA1_1
Description:GATA binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,786,615 - 48,786,675EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002049.4(GATA1):c.220+1del deletion Anemia without thromobocytopenia, X-linked [RCV000024619]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144254] ChrX:48791329 [GRCh38]
ChrX:48649736 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp) single nucleotide variant Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [RCV000024620] ChrX:48792370 [GRCh38]
ChrX:48650777 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.613G>A (p.Val205Met) single nucleotide variant Dyserythropoietic anemia with thrombocytopenia [RCV000011168]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144255] ChrX:48792337 [GRCh38]
ChrX:48650744 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144258]|Thrombocytopenia [RCV000852181]|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011169] ChrX:48792377 [GRCh38]
ChrX:48650784 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser) indel GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144256]|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011170] ChrX:48792346..48792347 [GRCh38]
ChrX:48650753..48650754 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.184_187dup (p.Tyr63fs) duplication Leukemia, megakaryoblastic, of Down syndrome [RCV000011171] ChrX:48791292..48791293 [GRCh38]
ChrX:48649699..48649700 [GRCh37]
ChrX:Xp11.23
pathogenic|other
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr) single nucleotide variant Dyserythropoietic anemia with thrombocytopenia [RCV000011172]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144259] ChrX:48792376 [GRCh38]
ChrX:48650783 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln) single nucleotide variant Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [RCV000011173] ChrX:48792371 [GRCh38]
ChrX:48650778 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.154_173dup (p.Ala59fs) duplication Acute megakaryoblastic leukemia [RCV000011174] ChrX:48791260..48791261 [GRCh38]
ChrX:48649667..48649668 [GRCh37]
ChrX:Xp11.23
pathogenic|other
GATA1, 332G-C single nucleotide variant Anemia without thromobocytopenia, X-linked [RCV000011175]|X-linked anemia without thromobocytopenia [RCV000011175] ChrX:Xp11.23 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_002049.3(GATA1):c.21del (p.Ser8fs) deletion GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000544726] ChrX:48791127 [GRCh38]
ChrX:48649534 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_002049.3(GATA1):c.2T>C (p.Met1Thr) single nucleotide variant Anemia without thromobocytopenia, X-linked [RCV000754842]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144252] ChrX:48791111 [GRCh38]
ChrX:48649518 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.220G>C (p.Val74Leu) single nucleotide variant Anemia without thromobocytopenia, X-linked [RCV000011175]|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144253] ChrX:48791329 [GRCh38]
ChrX:48649736 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.220+1delG deletion GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144254] ChrX:48791330 [GRCh38]
ChrX:48649737 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144257] ChrX:48792346 [GRCh38]
ChrX:48650753 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144260] ChrX:48793916 [GRCh38]
ChrX:48652323 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144261]|Thrombocytopenia [RCV001003925] ChrX:48794162 [GRCh38]
ChrX:48652569 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) single nucleotide variant Diamond-Blackfan anemia [RCV000228015]|not specified [RCV000121144] ChrX:48791272 [GRCh38]
ChrX:48649679 [GRCh37]
ChrX:Xp11.23
benign|not provided
NM_002049.3(GATA1):c.949C>T (p.Arg317Trp) single nucleotide variant not specified [RCV000121145] ChrX:48793871 [GRCh38]
ChrX:48652278 [GRCh37]
ChrX:Xp11.23
not provided
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000552766] ChrX:48791198 [GRCh38]
ChrX:48649605 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002049.3(GATA1):c.174G>A (p.Ala58=) single nucleotide variant not specified [RCV000244516] ChrX:48791283 [GRCh38]
ChrX:48649690 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.3(GATA1):c.1173G>A (p.Thr391=) single nucleotide variant Diamond-Blackfan anemia [RCV000863524]|not specified [RCV000252528] ChrX:48794095 [GRCh38]
ChrX:48652502 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_002049.3(GATA1):c.-19-5C>T single nucleotide variant not specified [RCV000247974] ChrX:48791086 [GRCh38]
ChrX:48649493 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640922] ChrX:48792042 [GRCh38]
ChrX:48650449 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.3(GATA1):c.64G>A (p.Ala22Thr) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640925] ChrX:48791173 [GRCh38]
ChrX:48649580 [GRCh37]
ChrX:Xp11.23
benign
NM_002049.3(GATA1):c.1092C>G (p.Tyr364Ter) single nucleotide variant not provided [RCV000578997] ChrX:48794014 [GRCh38]
ChrX:48652421 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) single nucleotide variant Complete trisomy 21 syndrome [RCV000766096]|Diamond-Blackfan anemia [RCV000533431] ChrX:48791203 [GRCh38]
ChrX:48649610 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_002049.3(GATA1):c.919C>T (p.Arg307Cys) single nucleotide variant not specified [RCV000412884] ChrX:48793841 [GRCh38]
ChrX:48652248 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_002049.3(GATA1):c.622G>A (p.Gly208Arg) single nucleotide variant not provided [RCV000414345] ChrX:48792346 [GRCh38]
ChrX:48650753 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser) single nucleotide variant Diamond-Blackfan anemia [RCV000457001] ChrX:48792102 [GRCh38]
ChrX:48650509 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000471862] ChrX:48793814 [GRCh38]
ChrX:48652221 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_002049.3(GATA1):c.418C>T (p.Arg140Trp) single nucleotide variant not provided [RCV000479104] ChrX:48792041 [GRCh38]
ChrX:48650448 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) single nucleotide variant Diamond-Blackfan anemia [RCV000532112]|not specified [RCV000500961] ChrX:48791222 [GRCh38]
ChrX:48649629 [GRCh37]
ChrX:Xp11.23
benign|likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002049.3(GATA1):c.982G>A (p.Glu328Lys) single nucleotide variant not specified [RCV000499462] ChrX:48793904 [GRCh38]
ChrX:48652311 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002049.3(GATA1):c.520T>C (p.Ser174Pro) single nucleotide variant not provided [RCV000493228] ChrX:48792143 [GRCh38]
ChrX:48650550 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_002049.3(GATA1):c.212A>G (p.His71Arg) single nucleotide variant Diamond-Blackfan anemia [RCV000640924] ChrX:48791321 [GRCh38]
ChrX:48649728 [GRCh37]
ChrX:Xp11.23
benign
NC_000023.10:g.(?_48542223)_(48768933_?)dup duplication SLC35A2-CDG [RCV000651314] ChrX:48542223..48768933 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro) single nucleotide variant not provided [RCV000640921] ChrX:48791865 [GRCh38]
ChrX:48650272 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640923] ChrX:48792103 [GRCh38]
ChrX:48650510 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_002049.3(GATA1):c.220+1G>C single nucleotide variant GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000687498] ChrX:48791330 [GRCh38]
ChrX:48649737 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg) single nucleotide variant Diamond-Blackfan anemia [RCV000695247] ChrX:48792152 [GRCh38]
ChrX:48650559 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.3(GATA1):c.94dup (p.Val32fs) duplication GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000685793] ChrX:48791199..48791200 [GRCh38]
ChrX:48649606..48649607 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.824G>C (p.Gly275Ala) single nucleotide variant Macrothrombocytopenia [RCV000852233] ChrX:48793251 [GRCh38]
ChrX:48651658 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu) single nucleotide variant Diamond-Blackfan anemia [RCV001068369] ChrX:48791889 [GRCh38]
ChrX:48650296 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48543926)_(48652581_?)dup duplication Diamond-Blackfan anemia [RCV001033332] ChrX:48543926..48652581 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.4(GATA1):c.361G>A (p.Val121Met) single nucleotide variant Diamond-Blackfan anemia [RCV000867424] ChrX:48791984 [GRCh38]
ChrX:48650391 [GRCh37]
ChrX:Xp11.23
benign
NM_002049.4(GATA1):c.1045G>A (p.Val349Met) single nucleotide variant not provided [RCV000866495] ChrX:48793967 [GRCh38]
ChrX:48652374 [GRCh37]
ChrX:Xp11.23
benign
NM_002049.4(GATA1):c.150G>A (p.Pro50=) single nucleotide variant Diamond-Blackfan anemia [RCV000946004] ChrX:48791259 [GRCh38]
ChrX:48649666 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.4(GATA1):c.798G>A (p.Thr266=) single nucleotide variant Diamond-Blackfan anemia [RCV000866919] ChrX:48793225 [GRCh38]
ChrX:48651632 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.4(GATA1):c.621C>T (p.Cys207=) single nucleotide variant not provided [RCV000866279] ChrX:48792345 [GRCh38]
ChrX:48650752 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs) indel Diamond-Blackfan anemia [RCV000807395] ChrX:48793179..48793181 [GRCh38]
ChrX:48651586..48651588 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_002049.4(GATA1):c.822T>C (p.Ser274=) single nucleotide variant not provided [RCV000875102] ChrX:48793249 [GRCh38]
ChrX:48651656 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.4(GATA1):c.93G>T (p.Gly31=) single nucleotide variant Diamond-Blackfan anemia [RCV000864137] ChrX:48791202 [GRCh38]
ChrX:48649609 [GRCh37]
ChrX:Xp11.23
benign
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
NM_002049.4(GATA1):c.201G>A (p.Glu67=) single nucleotide variant Diamond-Blackfan anemia [RCV000862074] ChrX:48791310 [GRCh38]
ChrX:48649717 [GRCh37]
ChrX:Xp11.23
benign
NM_002049.4(GATA1):c.942A>G (p.Lys314=) single nucleotide variant Diamond-Blackfan anemia [RCV000868358] ChrX:48793864 [GRCh38]
ChrX:48652271 [GRCh37]
ChrX:Xp11.23
benign
NM_002049.4(GATA1):c.870+8C>T single nucleotide variant Diamond-Blackfan anemia [RCV000875456] ChrX:48793305 [GRCh38]
ChrX:48651712 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs) duplication Diamond-Blackfan anemia [RCV000801573] ChrX:48791272..48791273 [GRCh38]
ChrX:48649679..48649680 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs) duplication Diamond-Blackfan anemia [RCV000817722] ChrX:48791113..48791114 [GRCh38]
ChrX:48649520..48649521 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002049.4(GATA1):c.744+5G>A single nucleotide variant not provided [RCV000875677] ChrX:48792473 [GRCh38]
ChrX:48650880 [GRCh37]
ChrX:Xp11.23
benign
NM_002049.4(GATA1):c.745-9G>A single nucleotide variant Diamond-Blackfan anemia [RCV000863327] ChrX:48793163 [GRCh38]
ChrX:48651570 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_002049.4(GATA1):c.207C>T (p.Tyr69=) single nucleotide variant not provided [RCV000976931] ChrX:48791316 [GRCh38]
ChrX:48649723 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys) single nucleotide variant Diamond-Blackfan anemia [RCV000862181] ChrX:48792194 [GRCh38]
ChrX:48650601 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3 copy number gain not provided [RCV000845674] ChrX:48491182..48772769 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.3(GATA1):c.816T>A (p.Asn272Lys) single nucleotide variant Thrombocytopenia [RCV000852229] ChrX:48793243 [GRCh38]
ChrX:48651650 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys) single nucleotide variant Diamond-Blackfan anemia [RCV001224446] ChrX:48791960 [GRCh38]
ChrX:48650367 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) single nucleotide variant Diamond-Blackfan anemia [RCV001224493] ChrX:48791144 [GRCh38]
ChrX:48649551 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_002049.3(GATA1):c.652G>A (p.Asp218Asn) single nucleotide variant Macrothrombocytopenia [RCV000852178] ChrX:48792376 [GRCh38]
ChrX:48650783 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_002049.4(GATA1):c.220+1G>A single nucleotide variant Diamond-Blackfan anemia [RCV001229278] ChrX:48791330 [GRCh38]
ChrX:48649737 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_002049.4(GATA1):c.282C>T (p.Ala94=) single nucleotide variant not provided [RCV000953934] ChrX:48791905 [GRCh38]
ChrX:48650312 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.4(GATA1):c.501C>T (p.Asp167=) single nucleotide variant not provided [RCV000877522] ChrX:48792124 [GRCh38]
ChrX:48650531 [GRCh37]
ChrX:Xp11.23
likely benign
NM_002049.4(GATA1):c.98dup (p.Phe34fs) duplication Diamond-Blackfan anemia [RCV001068825] ChrX:48791203..48791204 [GRCh38]
ChrX:48649610..48649611 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser) single nucleotide variant Diamond-Blackfan anemia [RCV001053750] ChrX:48793946 [GRCh38]
ChrX:48652353 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) single nucleotide variant Diamond-Blackfan anemia [RCV001216171] ChrX:48793866 [GRCh38]
ChrX:48652273 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter) single nucleotide variant Diamond-Blackfan anemia [RCV001216172] ChrX:48791158 [GRCh38]
ChrX:48649565 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln) single nucleotide variant Diamond-Blackfan anemia [RCV001245788] ChrX:48793872 [GRCh38]
ChrX:48652279 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_002049.4(GATA1):c.680C>T (p.Ala227Val) single nucleotide variant Anemia [RCV001003924] ChrX:48792404 [GRCh38]
ChrX:48650811 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn) single nucleotide variant Diamond-Blackfan anemia [RCV001038757] ChrX:48791261 [GRCh38]
ChrX:48649668 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4170 AgrOrtholog
COSMIC GATA1 COSMIC
Ensembl Genes ENSG00000102145 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000365853 UniProtKB/TrEMBL
  ENSP00000365858 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000498550 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000376665 UniProtKB/TrEMBL
  ENST00000376670 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000651144 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102145 GTEx
HGNC ID HGNC:4170 ENTREZGENE
Human Proteome Map GATA1 Human Proteome Map
InterPro GATA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transcription_factor_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2623 UniProtKB/Swiss-Prot
NCBI Gene 2623 ENTREZGENE
OMIM 190685 OMIM
  300367 OMIM
  300835 OMIM
  305371 OMIM
  314050 OMIM
PANTHER PTHR10071 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10071:SF190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28584 PharmGKB
PRINTS GATAZNFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GATA_ZN_FINGER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GATA_ZN_FINGER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7WNQ9_HUMAN UniProtKB/TrEMBL
  GATA1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q96GB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-18 GATA1  GATA binding protein 1  GATA1  GATA binding protein 1 (globin transcription factor 1)  Symbol and/or name change 5135510 APPROVED