AutismKB 2.0

Annotation Detail for GALC


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Basic Information Top
Gene Symbol:GALC ( - )
Gene Full Name: galactosylceramidase
Band: 14q31.3
Quick LinksEntrez ID:2581; OMIM: 606890; Uniprot ID:GALC_HUMAN; ENSEMBL ID: ENSG00000054983; HGNC ID: 4115
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
143N-linked (GlcNAc...) (Potential).
379N-linked (GlcNAc...) (Potential).
403N-linked (GlcNAc...) (Potential).
556N-linked (GlcNAc...) (Potential).
559N-linked (GlcNAc...) (Potential).
602N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
127N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
363N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
387N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
540N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
543N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
586N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
127N-linkedHMM predict
250Phosphothreonine(PKC)HMM predict
261Phosphoserine(CK1)HMM predict
280Phosphotyrosine(INSR)HMM predict
298Phosphotyrosine(EGFR)HMM predict
363N-linkedHMM predict
460Phosphoserine(PKA)HMM predict
482SulfotyrosineHMM predict
530Phosphoserine(IKK)HMM predict
540N-linkedHMM predict
543N-linkedHMM predict
586N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000153
  • Location:chr14 87469110-87529659
  • 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 87481029 87481394 365 0
CTCF CD4SISSRdata 87481029 87481394 365 0
ER Fulvestrant-MCF7GSE14664 87484575 87484612 37 0
Nanog hESGSE18292 87486474 87486755 281 0
Oct1 H2O2-HelaGSE14283 87484579 87484609 30 0
Oct1 HelaGSE14283 87484575 87484605 30 0
hScc1 BcellGSE12603 87480998 87481488 490 0
hScc1 CdLSGSE12603 87480998 87481524 526 0
p130 SenescentGSE19898 87487548 87487742 194 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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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