AutismKB 2.0

Annotation Detail for CNTN1


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Basic Information Top
Gene Symbol:CNTN1 ( F3,GP135 )
Gene Full Name: contactin 1
Band: 12q12
Quick LinksEntrez ID:1272; OMIM: 600016; Uniprot ID:CNTN1_HUMAN; ENSEMBL ID: ENSG00000018236; HGNC ID: 2171
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
208N-linked (GlcNAc...) (Potential).
258N-linked (GlcNAc...) (Potential).
338N-linked (GlcNAc...) (Potential).
457N-linked (GlcNAc...) (Potential).
473N-linked (GlcNAc...) (Potential).
494N-linked (GlcNAc...).
521N-linked (GlcNAc...) (Potential).
591N-linked (GlcNAc...) (Potential).
933N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
208N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
258N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
338N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
457N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
473N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
494N-linked (GlcNAc...).Swiss-Prot 53.0
521N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
591N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
933N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
993GPI-anchor amidated serine (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
120Phosphotyrosine(Abl)HMM predict
134Phosphotyrosine(Syk)HMM predict
190Phosphoserine(PKG)HMM predict
197Phosphotyrosine(INSR)HMM predict
208N-linkedHMM predict
209Phosphotyrosine(INSR)HMM predict
215O-linkedHMM predict
258N-linkedHMM predict
308Phosphotyrosine(INSR)HMM predict
326Phosphotyrosine(EGFR)HMM predict
338N-linkedHMM predict
355O-linkedHMM predict
361Phosphothreonine(PKC)HMM predict
397Phosphotyrosine(SRC)HMM predict
401Phosphotyrosine(INSR)HMM predict
457N-linkedHMM predict
473N-linkedHMM predict
477N-linkedHMM predict
482Phosphotyrosine(INSR)HMM predict
494N-linkedHMM predict
521N-linkedHMM predict
591N-linkedHMM predict
619Phosphoserine(IKK)HMM predict
630N-linkedHMM predict
632Phosphoserine(CDK)HMM predict
809O-linkedHMM predict
821Phosphoserine(CK1)HMM predict
826Phosphoserine(CK1)HMM predict
906Phosphoserine(ATM)HMM predict
917Phosphoserine(CK1)HMM predict
933N-linkedHMM predict
972Phosphotyrosine(INSR)HMM predict
997Phosphothreonine(PKC)HMM predict
999Phosphoserine(MAPK)HMM predict
999Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001843
  • Location:chr12 39372624-39750360
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p63 keratinocytesGSE17611 39755976 39756652 676 5954
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39626769 39626900 131 0
CTCF CD4SISSRdata 39626769 39626900 131 0
CTCF G2GSE9613 39372416 39372952 536 0
CTCF G2GSE9613 39409713 39409855 142 0
CTCF G2GSE9613 39583095 39583380 285 0
ER Breast-CancerGSE22609 39692043 39692432 389 0
ER MCF7GSE19013 39691979 39692793 814 0
FoxA1 MCF7MACSdata 39666260 39666480 220 0
Myc K562GSE19551 39692111 39692416 305 0
NRSF JurkatGSE13047 39410320 39410689 369 0
NRSF-mono JurkatQuESTdata 39410321 39410619 298 0
NRSF-poly JurkatQuESTdata 39410417 39410709 292 0
Oct1 H2O2-HelaGSE14283 39403861 39403898 37 0
Oct1 H2O2-HelaGSE14283 39470130 39470185 55 0
Oct1 HelaGSE14283 39403861 39403897 36 0
Oct1 HelaGSE14283 39433468 39433498 30 0
Oct1 HelaGSE14283 39470131 39470175 44 0
Oct1 HelaGSE14283 39489085 39489164 79 0
Oct1 HelaGSE14283 39626338 39626367 29 0
Oct1 HelaGSE14283 39713459 39713491 32 0
Rb QuiescentGSE19898 39656983 39657118 135 0
hScc1 BcellGSE12603 39372841 39373398 557 0
hScc1 CdLSGSE12603 39372809 39373228 419 0
hScc1 CdLSGSE12603 39601232 39602210 978 0
hScc1 CdLSGSE12603 39626523 39626841 318 0
p63 keratinocytesGSE17611 39377569 39378566 997 0
p63 keratinocytesGSE17611 39511707 39512698 991 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