Variant Details for C8orf42


Gene Symbol: | C8orf42 ( DKFZp686J15216,INM01,TDRP ) |
---|---|
Gene Full Name: | chromosome 8 open reading frame 42 |
Band: | 8p23.3 |
Quick Links | Entrez ID:157695; OMIM: NA; Uniprot ID:CH042_HUMAN; ENSEMBL ID: ENSG00000180190; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |


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 | 6 | 0 | 0 | 0 | 0 | 0 | 6 |


CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
---|---|---|---|---|---|---|---|---|
AutCNV0000271 | 8 | 8p23 | 10000 | 12655629 | 12645629 | loss | external link | Wassink, 2001 |
AutCNV0000250 | 8 | 8p23.3-23.2 | 10000 | 6212592 | 6202592 | loss | external link | Yu, 2002 |
AutCNV0000264 | 8 | 8p21-23 | 10000 | 29644081 | 29634081 | gain | external link | Papanikolaou, 2006 |
AutCNV0001879 | 8 | 8p23.3 | 425369 | 505001 | 79632 | gain | external link | Pinto, 2010 |
AutCNV0003939 | 8 | 8p23.3 | 398198 | 443507 | 45309 | gain | external link | Levy, 2011 |
AutCNV0003263 | 8 | 8p23.3 | 457459 | 566207 | 108748 | gain | external link | Gai, 2011 |


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 |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
---|---|---|---|---|---|---|---|---|---|
No related data! |


Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
---|---|---|---|---|---|---|---|
No related data! |