AutismKB 2.0

Annotation Detail for L1CAM


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Basic Information Top
Gene Symbol:L1CAM ( CAML1,CD171,HSAS,HSAS1,MASA,MIC5,N-CAML1,S10,SPG1 )
Gene Full Name: L1 cell adhesion molecule
Band: Xq28
Quick LinksEntrez ID:3897; OMIM: 308840; Uniprot ID:L1CAM_HUMAN; ENSEMBL ID: ENSG00000198910; HGNC ID: 6470
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
100N-linked (GlcNAc...) (Potential).
203N-linked (GlcNAc...) (Potential).
247N-linked (GlcNAc...) (Potential).
294N-linked (GlcNAc...) (Potential).
433N-linked (GlcNAc...) (Potential).
479N-linked (GlcNAc...) (Potential).
490N-linked (GlcNAc...) (Potential).
505N-linked (GlcNAc...) (Potential).
556Cell attachment site (Potential).
588N-linked (GlcNAc...) (Potential).
671N-linked (GlcNAc...).
726N-linked (GlcNAc...) (Potential).
777N-linked (GlcNAc...) (Potential).
825N-linked (GlcNAc...) (Potential).
849N-linked (GlcNAc...) (Potential).
876N-linked (GlcNAc...) (Potential).
979N-linked (GlcNAc...) (Potential).
1022N-linked (GlcNAc...) (Potential).
1030N-linked (GlcNAc...) (Potential).
1071N-linked (GlcNAc...) (Potential).
1105N-linked (GlcNAc...) (Potential).
1163Phosphoserine.
1181Phosphoserine (By similarity).
1190Phosphoserine.
1191Phosphoserine.
1194Phosphoserine.
1247Phosphothreonine (By similarity).
1248Phosphoserine.
Location(AA) Modifications Resource
100N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
203N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
247N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
294N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
433N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
479N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
490N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
505N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
588N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
671N-linked (GlcNAc...).Swiss-Prot 53.0
726N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
777N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
825N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
849N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
876N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
979N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1022N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1030N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1071N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1105N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1152PhosphoserinePhospho.ELM 6.0
1163Phosphoserine.Swiss-Prot 53.0
1163PhosphoserinePhospho.ELM 6.0
1181Phosphoserine (CK2
1190Phosphoserine.Swiss-Prot 53.0
1190PhosphoserinePhospho.ELM 6.0
1191PhosphoserinePhospho.ELM 6.0
1191Phosphoserine.Swiss-Prot 53.0
1194PhosphoserinePhospho.ELM 6.0
1194Phosphoserine.Swiss-Prot 53.0
1247Phosphothreonine (By similarity).Swiss-Prot 53.0
1248Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
17S-palmitoylHMM predict
92Phosphoserine(CDK)HMM predict
94Phosphoserine(IKK)HMM predict
100N-linkedHMM predict
101N-linkedHMM predict
103N-linkedHMM predict
163O-linkedHMM predict
203N-linkedHMM predict
207Phosphotyrosine(Jak)HMM predict
207Phosphotyrosine(INSR)HMM predict
247N-linkedHMM predict
294N-linkedHMM predict
310Phosphotyrosine(INSR)HMM predict
328Phosphothreonine(PKC)HMM predict
344Phosphotyrosine(INSR)HMM predict
433N-linkedHMM predict
436Phosphotyrosine(INSR)HMM predict
436Phosphotyrosine(SRC)HMM predict
436Phosphotyrosine(Syk)HMM predict
479N-linkedHMM predict
490N-linkedHMM predict
505N-linkedHMM predict
511N-linkedHMM predict
527Phosphothreonine(PKC)HMM predict
569Phosphotyrosine(Jak)HMM predict
589Phosphotyrosine(INSR)HMM predict
611Phosphoserine(CDC2)HMM predict
634Phosphoserine(PKG)HMM predict
636Phosphoserine(IKK)HMM predict
671N-linkedHMM predict
676O-linkedHMM predict
701Phosphoserine(CDC2)HMM predict
704O-linkedHMM predict
704O-linkedHMM predict
709O-linkedHMM predict
726N-linkedHMM predict
730N-linkedHMM predict
777N-linkedHMM predict
778O-linkedHMM predict
811Phosphotyrosine(EGFR)HMM predict
811SulfotyrosineHMM predict
825N-linkedHMM predict
849N-linkedHMM predict
876N-linkedHMM predict
913Phosphothreonine(CDC2)HMM predict
979N-linkedHMM predict
1030N-linkedHMM predict
1071N-linkedHMM predict
1075SulfotyrosineHMM predict
1105N-linkedHMM predict
1141S-palmitoylHMM predict
1176Phosphotyrosine(INSR)HMM predict
1181Phosphoserine(CK2)HMM predict
1191Phosphoserine(ATM)HMM predict
1211SulfotyrosineHMM predict
1241N-linkedHMM predict
1243O-linkedHMM predict
1244O-linkedHMM predict
1248Phosphoserine(CDK)HMM predict
1248Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000425
  • Location:chrX 152780580-152794504
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 152794770 152795322 552 542
NRSF JurkatGSE13047 152796318 152797331 1013 2320
NRSF mAbJurkat 152794816 152795332 516 570
NRSF-poly JurkatQuESTdata 152794823 152795378 555 596
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata2 K562GSE18868 152772148 152772997 849 8008
hScc1 CdLSGSE12603 152778376 152778594 218 2096
hScc1 G2GSE9613 152780373 152780763 390 13
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 152779803 152781679 1876 0
CTCF G2GSE9613 152782084 152782961 877 0
CTCF G2GSE9613 152783257 152783858 601 0
CTCF G2GSE9613 152785996 152786422 426 0
CTCF G2GSE9613 152787095 152787853 758 0
CTCF G2GSE9613 152788660 152789171 511 0
CTCF G2GSE9613 152789588 152790457 869 0
CTCF G2GSE9613 152790710 152792102 1392 0
CTCF G2GSE9613 152793866 152794933 1067 0
KLF4 hESGSE17917 152792375 152792644 269 0
NRSF JurkatGSE13047 152790528 152794729 4201 0
NRSF mAbJurkat 152790457 152792281 1824 0
NRSF-mono JurkatQuESTdata 152792425 152795201 2776 0
NRSF-poly JurkatQuESTdata 152792037 152794729 2692 0
Rb GrowingGSE19898 152794149 152794270 121 0
hScc1 G2GSE9613 152781095 152781718 623 0
hScc1 G2GSE9613 152782037 152782961 924 0
hScc1 G2GSE9613 152788623 152789138 515 0
hScc1 G2GSE9613 152789825 152790249 424 0
hScc1 G2GSE9613 152790817 152791196 379 0
hScc1 G2GSE9613 152791555 152792207 652 0
hScc1 G2GSE9613 152793902 152794743 841 0
p130 SenescentGSE19898 152787331 152787623 292 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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