AutismKB 2.0

Annotation Detail for CHL1


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Basic Information Top
Gene Symbol:CHL1 ( CALL,FLJ44930,L1CAM2,MGC132578 )
Gene Full Name: cell adhesion molecule with homology to L1CAM (close homolog of L1)
Band: 3p26.3
Quick LinksEntrez ID:10752; OMIM: 607416; Uniprot ID:CHL1_HUMAN; ENSEMBL ID: ENSG00000134121; HGNC ID: 1939
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
299N-linked (GlcNAc...) (Potential).
476N-linked (GlcNAc...).
482N-linked (GlcNAc...).
558DGEA.
562N-linked (GlcNAc...).
580N-linked (GlcNAc...) (Potential).
767N-linked (GlcNAc...).
822N-linked (GlcNAc...).
945N-linked (GlcNAc...) (Potential).
1026N-linked (GlcNAc...).
1127Phosphoserine (By similarity).
1147Phosphoserine (By similarity).
1185FIG[AQ]Y.
Location(AA) Modifications Resource
299N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
476N-linked (GlcNAc...).Swiss-Prot 53.0
482N-linked (GlcNAc...).Swiss-Prot 53.0
562N-linked (GlcNAc...).Swiss-Prot 53.0
580N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
767N-linked (GlcNAc...).Swiss-Prot 53.0
822N-linked (GlcNAc...).Swiss-Prot 53.0
945N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1026N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
52SulfotyrosineHMM predict
87N-linkedHMM predict
88N-linkedHMM predict
181Phosphotyrosine(Syk)HMM predict
202Phosphotyrosine(INSR)HMM predict
246Phosphoserine(CK2)HMM predict
308Phosphotyrosine(INSR)HMM predict
361Phosphothreonine(PKC)HMM predict
367N-linkedHMM predict
369Phosphoserine(CDC2)HMM predict
373N-linkedHMM predict
394N-linkedHMM predict
433Phosphotyrosine(INSR)HMM predict
433Phosphotyrosine(Abl)HMM predict
476N-linkedHMM predict
482N-linkedHMM predict
513N-linkedHMM predict
520Phosphoserine(CDC2)HMM predict
520Phosphoserine(CDK)HMM predict
562N-linkedHMM predict
575N-linkedHMM predict
580N-linkedHMM predict
695Phosphoserine(ATM)HMM predict
695Phosphoserine(IKK)HMM predict
698O-linkedHMM predict
698Phosphoserine(ATM)HMM predict
698Phosphoserine(IKK)HMM predict
706Phosphothreonine(CDK)HMM predict
767N-linkedHMM predict
808SulfotyrosineHMM predict
822N-linkedHMM predict
945N-linkedHMM predict
957N-linkedHMM predict
969N-linkedHMM predict
972Phosphothreonine(CDK)HMM predict
984N-linkedHMM predict
1026N-linkedHMM predict
1049Phosphothreonine(PKC)HMM predict
1055N-linkedHMM predict
1074Phosphotyrosine(INSR)HMM predict
1101S-palmitoylHMM predict
1136SulfotyrosineHMM predict
1139Phosphoserine(ATM)HMM predict
1163Phosphoserine(CK1)HMM predict
1167SulfotyrosineHMM predict
1191LysineHMM predict
1196O-linkedHMM predict
1197N-linkedHMM predict
1199Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006614
  • Location:chr3 213649-426094
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 436377 436665 288 10427
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 281097 281938 841 0
CTCF G2GSE9613 213438 215037 1599 0
CTCF G2GSE9613 325783 325995 212 0
FOXA1 MCF7GSE15244 397649 397961 312 0
KLF4 hESGSE17917 229219 229608 389 0
Nanog hESGSE18292 393717 394055 338 0
P300 T30-glioblastomaGSE21026 281061 281988 927 0
Sox2 hESGSE18292 370985 371305 320 0
Sox2 hESGSE18292 393860 394083 223 0
VDR GM10855-stimGSE22484 313848 315348 1500 0
VDR GM10861-stimGSE22484 313736 315345 1609 0
hScc1 BcellGSE12603 213476 214269 793 0
hScc1 BcellGSE12603 370917 371580 663 0
hScc1 CdLSGSE12603 370744 371996 1252 0
hScc1 CdLSGSE12603 393680 394000 320 0
hScc1 G2GSE9613 214269 215037 768 0
hScc1 G2GSE9613 370564 371438 874 0
p63 keratinocytesGSE17611 245674 246581 907 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
17703 mRNA CHL1 chr3 213649 426098 116 mRNA chr3 380055 402478Sense/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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