| Variant ID | 29720 |
|---|---|
| Entrez Gene ID | 55061 |
| Gene | SUSD4 (GeneCards) |
| Location | hg19 1:223465897-223465897
hg38 1:223292555-223292555 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.223465897 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5845609 |
| Variant occurences in COSMIC | 2(NS) |
| EIGEN score | -0.1834 |
| CADD Raw score (version 1.3) | 3.574484 (Deleterious) |
| FATHMM raw prediction score | 0.8064 (Tolerated) |
| SIFT score | 0.051 (Tolerated) |
| LRT score | 0.114 (Tolerated) |
| MutationTaster score | 0.949 (Deleterious) |
| MutatioinAssessor score | 0.93 (Tolerated) |
| PROVEAN score | -0.73 (Tolerated) |
| MetaSVM score | -1.009 (Tolerated) |
| MetaLR score | 0.113 (Tolerated) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.461 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.982 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.07 |
| Deleterious probability by iFish2 | 0.2137 (Neutral) |
| Deleterious probability by DeFine | 0.9316 (Deleterious) |
| Entrez Gene ID | 55061 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SUSD4 (GeneCards) |
| Number of variants in SUSD4 in this database | 2 (view all the variants) |
| Full name | sushi domain containing 4 |
| Band | 1q41 |
| Other IDs | Vega: OTTHUMG00000037936 OMIM: 615827 HGNC: HGNC:25470 Ensembl: ENSG00000143502 |
| Other names | PRO222 |
| Summary | None |
| Individual ID | 28867142.21 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |