| Variant ID | 1368 |
|---|---|
| Entrez Gene ID | 81545 |
| Gene | FBXO38 (GeneCards) |
| Location | hg19 5:147774428-147774428
hg38 5:148394865-148394865 |
| Disease | Gender Dysphoria (view all the variants in this disease) |
| Method | HiSeq2500 |
| Mutation(HGVS format) | NC_000005.9:g.147774428 T>G (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 30 |
| Amino acid changes in protein | M > R |
| Position in cDNA | 89 |
| Changes in cDNA | T > G |
| mRNA accession | NM_205836.2 |
| mRNA length | 4424 |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4395 |
| CADD Raw score (version 1.3) | 5.983598 (Deleterious) |
| FATHMM raw prediction score | 0.93371 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.345 (Tolerated) |
| PROVEAN score | -3.26 (Deleterious) |
| MetaSVM score | -1.136 (Tolerated) |
| MetaLR score | 0.053 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.164 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.844 |
| Deleterious probability by iFish2 | 0.9944 (Deleterious) |
| Deleterious probability by DeFine | 0.9666 (Deleterious) |
| Entrez Gene ID | 81545 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FBXO38 (GeneCards) |
| Number of variants in FBXO38 in this database | 3 (view all the variants) |
| Full name | F-box protein 38 |
| Band | 5q32 |
| Other IDs | Vega: OTTHUMG00000129929 OMIM: 608533 HGNC: HGNC:28844 Ensembl: ENSG00000145868 |
| Other names | MOKA, Fbx38, HMN2D, SP329 |
| Summary | This gene encodes a large protein that contains an F-box domain and may participate in protein ubiquitination. The encoded protein is a transcriptional co-activator of Krueppel-like factor 7 (Klf7). A heterozygous mutation in this gene was found in individuals with autosomal dominant distal hereditary motor neuronopathy type IID. There is a pseudogene for this gene on chromosome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013] |
| Individual ID | 28765789.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28765789 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Gender Dysphoria (view all the variants in this disease) |
| OMIM ID | 138249 |
| Pubmed ID | 28765789 |
|---|---|
| Title | Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease. |
| Journal | Human Genome Variation |
| Publication date | 2017.07 |
| Disease | Gender Dysphoria |
| Number of cases | Male cases: 1; |