AutismKB 2.0

Annotation Detail for GTF2I


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Basic Information Top
Gene Symbol:GTF2I ( BAP135,BTKAP1,DIWS,FLJ38776,FLJ56355,GTFII-I,IB291,SPIN,TFII-I,WBS,WBSCR6 )
Gene Full Name: general transcription factor IIi
Band: 7q11.23
Quick LinksEntrez ID:2969; OMIM: 601679; Uniprot ID:GTF2I_HUMAN; ENSEMBL ID: ENSG00000077809; HGNC ID: 4659
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
103Phosphoserine.
207Phosphoserine.
210Phosphoserine.
248Phosphotyrosine; by BTK.
318Phosphotyrosine; by BTK (Probable).
327Nuclear localization signal (Potential).
398Phosphotyrosine; by BTK.
503Phosphotyrosine; by BTK.
515Phosphoserine.
517Phosphoserine.
558Phosphothreonine.
668Phosphoserine.
674Phosphoserine.
679Phosphoserine.
687Phosphothreonine.
823Phosphoserine.
Location(AA) Modifications Resource
210Phosphoserine.Swiss-Prot 53.0
248Phosphotyrosine (by BTK) (Probable).Swiss-Prot 53.0
248Phosphotyrosine (BTK)Phospho.ELM 6.0
318Phosphotyrosine (Src)Phospho.ELM 6.0
318Phosphotyrosine (by BTK) (Probable).Swiss-Prot 53.0
398Phosphotyrosine (BTK)Phospho.ELM 6.0
503Phosphotyrosine (BTK)Phospho.ELM 6.0
517Phosphoserine.Swiss-Prot 53.0
517PhosphoserinePhospho.ELM 6.0
668Phosphoserine.Swiss-Prot 53.0
674Phosphoserine.Swiss-Prot 53.0
679PhosphoserinePhospho.ELM 6.0
679Phosphoserine.Swiss-Prot 53.0
687Phosphothreonine.Swiss-Prot 53.0
823Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
16Phosphoserine(CK2)HMM predict
16Phosphoserine(CK1)HMM predict
17Phosphoserine(CK1)HMM predict
111Phosphothreonine(PKC)HMM predict
210Phosphoserine(MAPK)HMM predict
210Phosphoserine(CDC2)HMM predict
238Phosphothreonine(PKC)HMM predict
243Phosphoserine(CK2)HMM predict
248PhosphotyrosineHMM predict
249SulfotyrosineHMM predict
301Phosphoserine(CK1)HMM predict
304Phosphoserine(CK2)HMM predict
318Phosphotyrosine(INSR)HMM predict
318SulfotyrosineHMM predict
318Phosphotyrosine(Syk)HMM predict
319Phosphoserine(INSR)HMM predict
319Phosphoserine(ATM)HMM predict
373Phosphotyrosine(EGFR)HMM predict
412Phosphoserine(PKA)HMM predict
414Phosphotyrosine(SRC)HMM predict
440N-linkedHMM predict
503SulfotyrosineHMM predict
558Phosphothreonine(MAPK)HMM predict
558Phosphothreonine(CDK)HMM predict
558Phosphothreonine(CDC2)HMM predict
674Phosphoserine(CDC2)HMM predict
674Phosphoserine(IKK)HMM predict
677Phosphoserine(CDK)HMM predict
703Phosphothreonine(CDK)HMM predict
703Phosphothreonine(MAPK)HMM predict
707O-linkedHMM predict
708N-linkedHMM predict
711N-linkedHMM predict
764Phosphoserine(CK2)HMM predict
784Phosphoserine(PKA)HMM predict
818O-linkedHMM predict
819O-linkedHMM predict
820Phosphoserine(CK1)HMM predict
820O-linkedHMM predict
821Phosphoserine(CDK)HMM predict
821O-linkedHMM predict
823Phosphoserine(CDC2)HMM predict
829N-linkedHMM predict
831Phosphoserine(CDC2)HMM predict
833N-linkedHMM predict
835N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001518
  • Location:chr7 73709965-73812955
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73762287 73762415 128 0
CTCF CD4SISSRdata 73762287 73762415 128 0
CTCF G2GSE9613 73710514 73710819 305 0
CTCF G2GSE9613 73792559 73792849 290 0
Myc hESGSE17917 73709988 73710322 334 0
NRSF pAbJurkat 73709754 73710201 447 0
Oct1 H2O2-HelaGSE14283 73754572 73754598 26 0
RNAII Tamoxifen-MCF7GSE14664 73755267 73755308 41 0
Stat6 IL-4-hr4GSE17850 73774386 73774923 537 0
hScc1 BcellGSE12603 73792260 73792628 368 0
hScc1 BcellGSE12603 73793736 73794199 463 0
hScc1 CdLSGSE12603 73709884 73710201 317 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
24173 mRNA GTF2I chr7 73516680 73619671 241 EST chr7 73559194 73587881Sense/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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