AutismKB 2.0

Annotation Detail for ITSN1


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Basic Information Top
Gene Symbol:ITSN1 ( ITSN,MGC134948,MGC134949,SH3D1A,SH3P17 )
Gene Full Name: intersectin 1 (SH3 domain protein)
Band: 21q22.11
Quick LinksEntrez ID:6453; OMIM: 602442; Uniprot ID:ITSN1_HUMAN; ENSEMBL ID: ENSG00000205726; HGNC ID: 6183
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
313Phosphoserine (By similarity).
315Phosphoserine.
318Phosphoserine (By similarity).
495N6-acetyllysine.
559Phosphoserine.
902Phosphoserine.
904Phosphoserine.
977Phosphothreonine (By similarity).
978Phosphoserine.
986Phosphoserine.
1137Phosphoserine (By similarity).
Location(AA) Modifications Resource
313Phosphoserine (By similarity).Swiss-Prot 53.0
315Phosphoserine (By similarity).Swiss-Prot 53.0
318Phosphoserine (By similarity).Swiss-Prot 53.0
559Phosphoserine.Swiss-Prot 53.0
902Phosphoserine (By similarity).Swiss-Prot 53.0
904Phosphoserine.Swiss-Prot 53.0
904PhosphoserinePhospho.ELM 6.0
977Phosphothreonine (By similarity).Swiss-Prot 53.0
1137Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
92Phosphotyrosine(INSR)HMM predict
110Phosphoserine(PKG)HMM predict
178Phosphothreonine(PKC)HMM predict
182Phosphoserine(CDK)HMM predict
184Phosphoserine(IKK)HMM predict
186O-linkedHMM predict
186Phosphoserine(CK1)HMM predict
192Phosphoserine(IKK)HMM predict
264N-linkedHMM predict
303Phosphotyrosine(INSR)HMM predict
477Phosphothreonine(PKC)HMM predict
567Phosphothreonine(PKC)HMM predict
819Phosphoserine(IKK)HMM predict
820O-linkedHMM predict
821O-linkedHMM predict
821Phosphoserine(IKK)HMM predict
839O-linkedHMM predict
840O-linkedHMM predict
840O-linkedHMM predict
841O-linkedHMM predict
841O-linkedHMM predict
841Phosphoserine(IKK)HMM predict
844O-linkedHMM predict
859O-linkedHMM predict
878O-linkedHMM predict
897O-linkedHMM predict
901O-linkedHMM predict
901Phosphoserine(IKK)HMM predict
902O-linkedHMM predict
902Phosphoserine(CDC2)HMM predict
904O-linkedHMM predict
981O-linkedHMM predict
983Phosphoserine(IKK)HMM predict
984O-linkedHMM predict
986Phosphoserine(IKK)HMM predict
995Phosphoserine(CDC2)HMM predict
1063Phosphoserine(CK1)HMM predict
1137Phosphoserine(MAPK)HMM predict
1137Phosphoserine(CDC2)HMM predict
1144O-linkedHMM predict
1146O-linkedHMM predict
1151O-linkedHMM predict
1208Phosphotyrosine(EGFR)HMM predict
1218Phosphoserine(ATM)HMM predict
1274Phosphothreonine(PKC)HMM predict
1274Phosphothreonine(CK2)HMM predict
1396Phosphothreonine(CDC2)HMM predict
1418Phosphoserine(ATM)HMM predict
1506Phosphoserine(CDC2)HMM predict
1550Phosphothreonine(PKC)HMM predict
1593Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001132
  • Location:chr21 33936653-34132670
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 33936124 33937068 944 58
PHF8 HeLaGSE20725 33935219 33937647 2428 221
Rb QuiescentGSE19898 33936446 33936751 305 55
Rb SenescentGSE19898 33936327 33936836 509 72
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 33936713 33937054 341 0
FOXA1 MCF7GSE15244 34095613 34096744 1131 0
FOXA1 MCF7GSE15244 34101812 34102050 238 0
FoxA1 MCF7MACSdata 34095787 34096129 342 0
H3K4me3 colorectalcancer 33937701 33938140 439 0
Myc K562GSE19551 34045247 34045684 437 0
Myc K562GSE19551 34055856 34056247 391 0
Nanog ESGSE20650 33986397 33986787 390 0
P300 T30-glioblastomaGSE21026 33949146 33950758 1612 0
P300 T30-glioblastomaGSE21026 34095585 34096515 930 0
Rb GrowingGSE19898 34068290 34068441 151 0
STAT1 HeLaGSE12782 34090262 34092413 2151 0
STAT1 HeLaGSE12783 34056668 34058419 1751 0
STAT1 HeLaGSE12783 34090296 34092458 2162 0
STAT1 HeLaGSE12783 34092536 34094274 1738 0
STAT1 IFNSISSRdata 34111871 34112587 716 0
TFAP2C MCF7GSE21234 34095910 34096669 759 0
hScc1 BcellGSE12603 33936794 33937158 364 0
hScc1 CdLSGSE12603 33936794 33937384 590 0
Validated miRNA targets Top
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


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