AutismKB 2.0

Annotation Detail for CRB1


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Basic Information Top
Gene Symbol:CRB1 ( LCA8,RP12 )
Gene Full Name: crumbs homolog 1 (Drosophila)
Band: 1q31.3
Quick LinksEntrez ID:23418; OMIM: 604210; Uniprot ID:CRUM1_HUMAN; ENSEMBL ID: ENSG00000134376; HGNC ID: 2343
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
30N-linked (GlcNAc...) (Potential).
41N-linked (GlcNAc...) (Potential).
42N-linked (GlcNAc...) (Potential).
215N-linked (GlcNAc...) (Potential).
287N-linked (GlcNAc...) (Potential).
313N-linked (GlcNAc...) (Potential).
322N-linked (GlcNAc...) (Potential).
418N-linked (GlcNAc...) (Potential).
427N-linked (GlcNAc...) (Potential).
453N-linked (GlcNAc...) (Potential).
550N-linked (GlcNAc...) (Potential).
561N-linked (GlcNAc...) (Potential).
657N-linked (GlcNAc...) (Potential).
757N-linked (GlcNAc...) (Potential).
871N-linked (GlcNAc...) (Potential).
880N-linked (GlcNAc...) (Potential).
968N-linked (GlcNAc...) (Potential).
975N-linked (GlcNAc...) (Potential).
1000N-linked (GlcNAc...) (Potential).
1190N-linked (GlcNAc...) (Potential).
1243N-linked (GlcNAc...) (Potential).
1265N-linked (GlcNAc...) (Potential).
1273N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
30N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
41N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
42N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
215N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
287N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
313N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
322N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
418N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
427N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
453N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
550N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
561N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
657N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
757N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
871N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
880N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
968N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
975N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1000N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1190N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1243N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1265N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1273N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
21Phosphotyrosine(INSR)HMM predict
30N-linkedHMM predict
31N-linkedHMM predict
36Phosphoserine(PKC)HMM predict
41N-linkedHMM predict
42N-linkedHMM predict
84O-linkedHMM predict
88Phosphothreonine(MAPK)HMM predict
109O-linkedHMM predict
110O-linkedHMM predict
215N-linkedHMM predict
216Phosphotyrosine(Abl)HMM predict
220N-linkedHMM predict
287N-linkedHMM predict
313N-linkedHMM predict
322N-linkedHMM predict
359Phosphoserine(CK1)HMM predict
363Phosphotyrosine(SRC)HMM predict
381Phosphotyrosine(INSR)HMM predict
418N-linkedHMM predict
427N-linkedHMM predict
453N-linkedHMM predict
561N-linkedHMM predict
563Phosphoserine(CK1)HMM predict
597Phosphothreonine(MAPK)HMM predict
597Phosphothreonine(CDK)HMM predict
638Phosphoserine(IKK)HMM predict
724Phosphotyrosine(Jak)HMM predict
757N-linkedHMM predict
760Phosphotyrosine(SRC)HMM predict
779Phosphoserine(MAPK)HMM predict
811Phosphoserine(ATM)HMM predict
867N-linkedHMM predict
870N-linkedHMM predict
871N-linkedHMM predict
880N-linkedHMM predict
968N-linkedHMM predict
1040Phosphoserine(IKK)HMM predict
1046Phosphoserine(ATM)HMM predict
1057N-linkedHMM predict
1063O-linkedHMM predict
1065O-linkedHMM predict
1081SulfotyrosineHMM predict
1243N-linkedHMM predict
1265N-linkedHMM predict
1270N-linkedHMM predict
1273N-linkedHMM predict
1380Phosphoserine(CDK)HMM predict
1380Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_201253
  • Location:chr1 195504030-195714206
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 195721127 195722206 1079 7460
FOXA1 MCF7GSE15244 195721174 195722001 827 7381
FoxA1 MCF7MACSdata 195721528 195721960 432 7538
RARA MCF7GSE15244 195721028 195722001 973 7308
RARA MCF7GSE15244 195722361 195722536 175 8242
RARG MCF7GSE15244 195721028 195722001 973 7308
TFAP2C MCF7GSE21234 195721103 195722103 1000 7397
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 195562848 195563054 206 0
CTCF CD4GSE12889 195592824 195593064 240 0
CTCF CD4SISSRdata 195592824 195593064 240 0
ER E2-MCF7GSE14664 195698649 195698683 34 0
KLF4 hESGSE17917 195662704 195662861 157 0
Nanog ESGSE20650 195590566 195590739 173 0
Oct1 HelaGSE14283 195698644 195698679 35 0
hScc1 BcellGSE12603 195657565 195657850 285 0
hScc1 CdLSGSE12603 195592521 195593109 588 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
2110 mRNA CRB1 chr1 193969064 194179241 20396 EST chr1 194158845 194188254 Non-exonic Bidirectional (NOB) 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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