AutismKB 2.0

Annotation Detail for GATA1


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Basic Information Top
Gene Symbol:GATA1 ( ERYF1,GATA-1,GF-1,GF1,NFE1,XLTT )
Gene Full Name: GATA binding protein 1 (globin transcription factor 1)
Band: Xp11.23
Quick LinksEntrez ID:2623; OMIM: 305371; Uniprot ID:GATA1_HUMAN; ENSEMBL ID: ENSG00000102145; HGNC ID: 4170
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
26Phosphoserine (By similarity).
72Phosphoserine (By similarity).
142Phosphoserine.
178Phosphoserine (By similarity).
187Phosphoserine (By similarity).
310Phosphoserine (By similarity).
Location(AA) Modifications Resource
310Phosphoserine (PKB
Location(AA) Modification Resource
27Phosphothreonine(CDC2)HMM predict
46O-linkedHMM predict
46O-linkedHMM predict
47O-linkedHMM predict
48O-linkedHMM predict
51O-linkedHMM predict
51O-linkedHMM predict
52O-linkedHMM predict
54O-linkedHMM predict
107O-linkedHMM predict
112O-linkedHMM predict
131Phosphoserine(IKK)HMM predict
142Phosphoserine(MAPK)HMM predict
174Phosphoserine(CDK)HMM predict
174Phosphoserine(CDC2)HMM predict
174Phosphoserine(CDK)HMM predict
176O-linkedHMM predict
178Phosphoserine(CDC2)HMM predict
182O-linkedHMM predict
185Phosphotyrosine(INSR)HMM predict
185Phosphotyrosine(Abl)HMM predict
193Phosphothreonine(PKA)HMM predict
212Phosphothreonine(MAPK)HMM predict
272N-linkedHMM predict
274Phosphoserine(PKB)HMM predict
296Phosphothreonine(PKC)HMM predict
304Phosphothreonine(PKC)HMM predict
310Phosphoserine(PKG)HMM predict
319Phosphoserine(PKA)HMM predict
389Phosphoserine(CDK)HMM predict
389Phosphoserine(IKK)HMM predict
389Phosphoserine(CDC2)HMM predict
402O-linkedHMM predict
404O-linkedHMM predict
404O-linkedHMM predict
406O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002049
  • Location:chrX 48529905-48537658
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48516649 48516786 137 13188
CTCF G2GSE9613 48518093 48518519 426 11600
CTCF G2GSE9613 48528298 48528766 468 1374
CTCF G2GSE9613 48529304 48530289 985 109
Gata1 K562GSE18868 48526132 48526759 627 3460
Gata1 K562GSE18868 48529018 48529514 496 640
Gata2 K562GSE18868 48526012 48526669 657 3565
Gata2 K562GSE18868 48528997 48529677 680 569
Oct1 H2O2-HelaGSE14283 48528722 48528749 27 1170
Oct1 H2O2-HelaGSE14283 48529624 48529658 34 265
Oct1 HelaGSE14283 48518308 48518349 41 11577
Oct1 HelaGSE14283 48528717 48528755 38 1170
hScc1 G2GSE9613 48516649 48516975 326 13094
hScc1 G2GSE9613 48518093 48518383 290 11668
hScc1 G2GSE9613 48520553 48520849 296 9205
hScc1 G2GSE9613 48528545 48528766 221 1250
hScc1 G2GSE9613 48529559 48530185 626 34
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48537881 48538048 167 306
Gata2 K562GSE18868 48537642 48538787 1145 556
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48531856 48532042 186 0
CTCF G2GSE9613 48536516 48536703 187 0
TAF k562GSE8489 48530133 48531236 1103 0
TAF k562GSE8489 48531856 48532150 294 0
TAF k562GSE8489 48532686 48532941 255 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 20448201
hsa-miR-124 hsa-mir-124-2 8 20448201
hsa-miR-124 hsa-mir-124-3 20 20448201
hsa-miR-125b hsa-mir-125b-1 11 20194440
hsa-miR-125b hsa-mir-125b-2 21 20194440
hsa-miR-125b-2* hsa-mir-125b-2 21 20194440
hsa-miR-144 hsa-mir-144 17 18303114
hsa-miR-144* hsa-mir-144 17 18303114
hsa-miR-181a hsa-mir-181a-2 9 18809607
hsa-miR-181a hsa-mir-181a-1 1 18809607
hsa-miR-181a* hsa-mir-181a-1 1 18809607
hsa-miR-181a-2* hsa-mir-181a-2 9 18809607
hsa-miR-181b hsa-mir-181b-1 1 18809607
hsa-miR-181b hsa-mir-181b-2 9 18809607
hsa-miR-181c hsa-mir-181c 19 18809607
hsa-miR-181c* hsa-mir-181c 19 18809607
hsa-miR-181d hsa-mir-181d 19 18809607
hsa-miR-30e hsa-mir-30e 1 19582161
hsa-miR-30e* hsa-mir-30e 1 19582161
hsa-miR-451 hsa-mir-451 17 18303114
No data
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018