AutismKB 2.0

Variant Details for CROCC


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Basic Information Top
Gene Symbol:CROCC ( KIAA0445,ROLT )
Gene Full Name: ciliary rootlet coiled-coil, rootletin
Band: 1p36.13
Quick LinksEntrez ID:9696; OMIM: NA; Uniprot ID:CROCC_HUMAN; ENSEMBL ID: ENSG00000058453; HGNC ID: 21299
Relate to Another Database: SFARIGene; denovo-db
Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
Genetic Category CNVs/SVs de novo Mutations Mosaics SNVs NGS Other Mutations Low-Scale Gene Mutations Linkage Regions Total
Number 15 3 0 0 0 0 18
CNVs/SVs Top
CNV ID Chr Band Start End Size Gain/Loss UCSC Browser Reference
AutCNV0001497 1 1p36.13 17046439 17267496 221057 loss external link Pinto, 2010
AutCNV0001493 1 1p36.13 17213883 17267496 53613 loss external link Pinto, 2010
AutCNV0001389 1 1p36.13 17213883 17267496 53613 loss external link Pinto, 2010
AutCNV0001388 1 1p36.13 16972610 17267496 294886 loss external link Pinto, 2010
AutCNV0001173 1 1p36.13 17213883 17267496 53613 loss external link Pinto, 2010
AutCNV0002319 1 1p36.13 17213369 17263377 50008 loss external link Pinto, 2010
AutCNV0001172 1 1p36.13 17213883 17267496 53613 loss external link Pinto, 2010
AutCNV0002318 1 1p36.13 17206918 17267496 60578 loss external link Pinto, 2010
AutCNV0001171 1 1p36.13 17206918 17267496 60578 loss external link Pinto, 2010
AutCNV0002317 1 1p36.13 17206918 17263377 56459 loss external link Pinto, 2010
AutCNV0000972 1 1p36.13 17213369 17274228 60859 loss external link Pinto, 2010
AutCNV0002316 1 1p36.13 17206918 17263377 56459 loss external link Pinto, 2010
AutCNV0000970 1 1p36.13 17213369 17275817 62448 loss external link Pinto, 2010
AutCNV0002235 1 1p36.13 17213369 17267496 54127 loss external link Pinto, 2010
AutCNV0001539 1 1p36.13 17213883 17263377 49494 loss external link Pinto, 2010
NGS de novo Mutations Top
iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
Chr Pos Ref Alt Coding AA Validated Method iFish Prediction iFish Probability Reference
1 17250836 A G Sanger sequencing De Rubeis S, 2014
1 17263235 G A PCR or Sanger sequencingneutral0.2238 Iossifov I, 2014
1 17272061 T C c.2096T>C p.Leu699Pro Not_tested deleterious0.9229 Takata A, 2018
NGS Mosaic Mutations Top
Chr Position Ref Alt Genotype Validated Method Reference
No related data!
NGS Other Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Low-Scale Gene Mutations Top
Chr Pos Ref Alt Coding AA Validated iFish Prediction iFish Probability Reference
No related data!
Linkage Regions Top
Linkage Name Band Chr Marker LOD NPL P Value Reference
No related data!




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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