Variant Details for PDXDC1
Basic Information Top
| Gene Symbol: | PDXDC1 ( KIAA0251,LP8165 ) |
|---|---|
| Gene Full Name: | pyridoxal-dependent decarboxylase domain containing 1 |
| Band: | 16p13.11 |
| Quick Links | Entrez ID:23042; OMIM: NA; Uniprot ID:PDXD1_HUMAN; ENSEMBL ID: ENSG00000179889; HGNC ID: 28995 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick 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 | 2 | 1 | 0 | 0 | 1 | 10 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000196 | 16 | 16p13.1 | 14982499 | 16482499 | 1500000 | gain | external link | Ullmann, 2007 |
| AutCNV0002899 | 16 | 16p13.11 | 14863532 | 16399812 | 1536280 | loss | external link | Pinto, 2010 |
| AutCNV0002110 | 16 | 16p13.11 | 14923664 | 15248083 | 324419 | gain | external link | Pinto, 2010 |
| AutCNV0002109 | 16 | 16p13.11 | 14863532 | 15462297 | 598765 | gain | external link | Pinto, 2010 |
| AutCNV0003989 | 16 | 16p13.11 | 14867879 | 15157864 | 289985 | loss | external link | Levy, 2011 |
| AutCNV0005160 | 14 | 14q11.2 | 21507092 | 21952439 | 445347 | loss | external link | Smyk M, 2016 |
NGS de novo Mutations TopiFish (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 |
|---|---|---|---|---|---|---|---|---|---|
| 16 | 15100370 | A | G | PCR or Sanger sequencing | neutral | 0.0868 | Iossifov I, 2014 | ||
| 16 | 15112743 | G | A | deleterious | 0.604 | Chen R, 2017 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| 16 | 15100370 | A | G | High-confidence mosaics | Resequencing | Lim ET, 2017 |
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 |
|---|---|---|---|---|---|---|---|
| AutLD0000091 | 16p13 | 16 | D16S2619 | - | 2.17 | - | Buxbaum, 2004 |