AutismKB 2.0

Annotation Detail for CILP


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Basic Information Top
Gene Symbol:CILP ( CILP-1,HsT18872 )
Gene Full Name: cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
Band: 15q22.31
Quick LinksEntrez ID:8483; OMIM: 603489; Uniprot ID:CILP1_HUMAN; ENSEMBL ID: ENSG00000138615; HGNC ID: 1980
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
129N-linked (GlcNAc...) (Potential).
132N-linked (GlcNAc...) (Potential).
346N-linked (GlcNAc...) (Probable).
420N-linked (GlcNAc...) (Potential).
550N-linked (GlcNAc...) (Potential).
631N-linked (GlcNAc...) (Potential).
1000N-linked (GlcNAc...) (Potential).
1056N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
129N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
132N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
346N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
420N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
550N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
631N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1000N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1056N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
71Phosphotyrosine(INSR)HMM predict
129N-linkedHMM predict
132N-linkedHMM predict
152C-linkedHMM predict
155C-linkedHMM predict
158C-linkedHMM predict
310Phosphotyrosine(SRC)HMM predict
310Phosphotyrosine(INSR)HMM predict
310Phosphotyrosine(Abl)HMM predict
310Phosphotyrosine(Syk)HMM predict
329S-palmitoylHMM predict
330S-palmitoylHMM predict
346N-linkedHMM predict
420N-linkedHMM predict
423N-linkedHMM predict
426Phosphotyrosine(Syk)HMM predict
427SulfotyrosineHMM predict
497Phosphoserine(PKG)HMM predict
550N-linkedHMM predict
633Phosphoserine(PKG)HMM predict
634O-linkedHMM predict
670Phosphoserine(CK1)HMM predict
820Phosphotyrosine(SRC)HMM predict
885Phosphoserine(PKG)HMM predict
885Phosphoserine(IKK)HMM predict
924Phosphotyrosine(Syk)HMM predict
924SulfotyrosineHMM predict
936Phosphoserine(IKK)HMM predict
1037Phosphoserine(PKG)HMM predict
1037Phosphoserine(PKA)HMM predict
1056N-linkedHMM predict
1077SulfotyrosineHMM predict
1160MethylarginineHMM predict
1174PhenylalanineHMM predict
1175PhenylalanineHMM predict
1176PhenylalanineHMM predict
1177PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003613
  • Location:chr15 63275397-63290863
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 63291497 63291761 264 766
CTCF CD4SISSRdata 63291497 63291761 264 766
CTCF JurkatGSE12889 63291464 63291743 279 740
CTCF G2GSE9613 63291958 63292227 269 1229
CTCF G2GSE9613 63293518 63293896 378 2844
ER MCF7GSE19013 63306724 63307173 449 16085
Myc K562GSE19551 63291261 63291883 622 709
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 63271376 63271857 481 3781
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 63289804 63290098 294 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