AutismKB 2.0

Annotation Detail for GAB1


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Basic Information Top
Gene Symbol:GAB1 ( - )
Gene Full Name: GRB2-associated binding protein 1
Band: 4q31.21
Quick LinksEntrez ID:2549; OMIM: 604439; Uniprot ID:GAB1_HUMAN; ENSEMBL ID: ENSG00000109458; HGNC ID: 4066
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
183Phosphotyrosine.
259Phosphotyrosine.
266Phosphoserine.
373Phosphotyrosine.
406Phosphotyrosine.
503Phosphothreonine (By similarity).
627Phosphotyrosine.
659Phosphotyrosine.
Location(AA) Modifications Resource
242Phosphotyrosine (InsR)Phospho.ELM 6.0
259Phosphotyrosine.Swiss-Prot 53.0
259PhosphotyrosinePhospho.ELM 6.0
266Phosphoserine.Swiss-Prot 53.0
266PhosphoserinePhospho.ELM 6.0
285Phosphotyrosine (Met;EGFR)Phospho.ELM 6.0
307Phosphotyrosine (Met;EGFR)Phospho.ELM 6.0
317PhosphotyrosinePhospho.ELM 6.0
373Phosphotyrosine (Met;EGFR;Ins)Phospho.ELM 6.0
406Phosphotyrosine (Met;EGFR)Phospho.ELM 6.0
447Phosphotyrosine (Met;EGFR;Ins)Phospho.ELM 6.0
472Phosphotyrosine (Met;EGFR;Ins)Phospho.ELM 6.0
476Phosphothreonine (MAPK1)Phospho.ELM 6.0
503Phosphothreonine (By similarity).Swiss-Prot 53.0
589Phosphotyrosine (Met;EGFR;Ins)Phospho.ELM 6.0
627Phosphotyrosine (Met;EGFR;Ins)Phospho.ELM 6.0
659Phosphotyrosine (Met;EGFR)Phospho.ELM 6.0
Location(AA) Modification Resource
15Phosphoserine(CDC2)HMM predict
100Phosphoserine(CK2)HMM predict
118N-linkedHMM predict
130O-linkedHMM predict
149O-linkedHMM predict
153Phosphoserine(IKK)HMM predict
154O-linkedHMM predict
155O-linkedHMM predict
155Phosphoserine(IKK)HMM predict
203O-linkedHMM predict
207Phosphothreonine(CK2)HMM predict
208Phosphoserine(CK1)HMM predict
208Phosphoserine(CK2)HMM predict
209Phosphoserine(IKK)HMM predict
225Phosphoserine(CK2)HMM predict
226Phosphoserine(ATM)HMM predict
244Phosphoserine(CDK)HMM predict
247O-linkedHMM predict
251Phosphoserine(PKG)HMM predict
251O-linkedHMM predict
274Phosphoserine(CDC2)HMM predict
289O-linkedHMM predict
294Phosphoserine(IKK)HMM predict
295Phosphoserine(IKK)HMM predict
312O-linkedHMM predict
312Phosphothreonine(MAPK)HMM predict
367Phosphoserine(PKB)HMM predict
371O-linkedHMM predict
377O-linkedHMM predict
381PhosphoserineHMM predict
381O-linkedHMM predict
417Phosphoserine(CK2)HMM predict
418Phosphoserine(CK1)HMM predict
419Phosphoserine(CK1)HMM predict
440PhosphoserineHMM predict
447PhosphotyrosineHMM predict
447Phosphotyrosine(INSR)HMM predict
460Phosphoserine(IKK)HMM predict
472Phosphotyrosine(INSR)HMM predict
472Phosphotyrosine(SRC)HMM predict
476Phosphothreonine(MAPK)HMM predict
500Phosphoserine(CDK)HMM predict
500Phosphoserine(CDC2)HMM predict
503Phosphothreonine(CDC2)HMM predict
503Phosphothreonine(CDK)HMM predict
503Phosphothreonine(MAPK)HMM predict
503PhosphothreonineHMM predict
567O-linkedHMM predict
572Phosphoserine(IKK)HMM predict
575Phosphoserine(CK1)HMM predict
576O-linkedHMM predict
578Phosphoserine(CK1)HMM predict
585Phosphoserine(CK1)HMM predict
589Phosphotyrosine(SRC)HMM predict
589PhosphotyrosineHMM predict
589Phosphotyrosine(INSR)HMM predict
589Phosphotyrosine(Syk)HMM predict
595N-linkedHMM predict
627Phosphotyrosine(Jak)HMM predict
638Phosphothreonine(CDK)HMM predict
638Phosphothreonine(MAPK)HMM predict
638Phosphothreonine(CDC2)HMM predict
638PhosphothreonineHMM predict
646Phosphoserine(IKK)HMM predict
648Phosphoserine(CK1)HMM predict
648Phosphoserine(IKK)HMM predict
648Phosphoserine(CK2)HMM predict
659SulfotyrosineHMM predict
683Phosphoserine(PKG)HMM predict
684Phosphothreonine(CK2)HMM predict
684Phosphothreonine(PKC)HMM predict
688Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002039
  • Location:chr4 144477499-144610727
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 144476164 144476333 169 1251
Oct1 H2O2-HelaGSE14283 144477135 144477184 49 340
Oct1 H2O2-HelaGSE14283 144477288 144477321 33 195
Oct1 HelaGSE14283 144477145 144477184 39 335
Oct1 HelaGSE14283 144477292 144477325 33 191
TAF HelaGSE8489 144475551 144475821 270 1814
hScc1 BcellGSE12603 144476442 144477955 1513 301
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 144623480 144623623 143 12824
TFAP2C MCF7GSE21234 144629185 144630174 989 18952
hScc1 BcellGSE12603 144623378 144623868 490 12896
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 144476928 144478544 1616 0
CTCF G2GSE9613 144490439 144490930 491 0
CTCF G2GSE9613 144516082 144516295 213 0
CTCF G2GSE9613 144528046 144528366 320 0
CTCF G2GSE9613 144539917 144540282 365 0
ER E2-MCF7GSE14664 144490855 144490888 33 0
ER E2-MCF7GSE14664 144561877 144561917 40 0
ER Fulvestrant-MCF7GSE14664 144515681 144515717 36 0
FOXA1 MCF7GSE15244 144499375 144500154 779 0
FOXA1 eGFPGSE10845 144499375 144500273 898 0
FOXA1 eGFPGSE10845 144529815 144530913 1098 0
FoxA1 MCF7MACSdata 144492699 144492904 205 0
FoxA1 MCF7MACSdata 144496101 144496283 182 0
FoxA1 MCF7MACSdata 144499490 144499856 366 0
FoxA1 MCF7MACSdata 144530121 144530413 292 0
H3K4me3 colorectalcancer 144478043 144479640 1597 0
H3ac HepG2E 144478459 144479372 913 0
Myc K562GSE19551 144485447 144485810 363 0
Nanog hESGSE18292 144539907 144540349 442 0
Oct1 H2O2-HelaGSE14283 144567466 144567505 39 0
Oct1 H2O2-HelaGSE14283 144592959 144592998 39 0
Oct1 HelaGSE14283 144490856 144490885 29 0
Oct1 HelaGSE14283 144526541 144526584 43 0
Oct1 HelaGSE14283 144543788 144543819 31 0
Oct1 HelaGSE14283 144561884 144561987 103 0
Oct1 HelaGSE14283 144567467 144567512 45 0
STAT1 HeLaGSE12782 144502488 144503851 1363 0
STAT1 HeLaGSE12783 144502041 144503851 1810 0
STAT1 HeLaGSE12783 144551986 144553820 1834 0
Sox2 hESGSE18292 144539896 144540571 675 0
Stat6 IL-4-hr1GSE17850 144525028 144525566 538 0
TFAP2C MCF7GSE21234 144516256 144516773 517 0
hScc1 BcellGSE12603 144478393 144478763 370 0
hScc1 BcellGSE12603 144489882 144490930 1048 0
hScc1 G2GSE9613 144476977 144478544 1567 0
p130 shRbQuiescentGSE19898 144531372 144531871 499 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
20272 mRNA GAB1 chr4 144615654 144748883 295 mRNA GAB1 chr4 144614022 144616575Sense/Antisense (SA) pairs

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


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