Evidence Details for C6orf57
Basic Information Top
| Gene Symbol: | C6orf57 ( MGC104225 ) |
|---|---|
| Gene Full Name: | chromosome 6 open reading frame 57 |
| Band: | 6q13 |
| Quick Links | Entrez ID:135154; OMIM: NA; Uniprot ID:CF057_HUMAN; ENSEMBL ID: ENSG00000154079; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>C6orf57|135154|nucleotide
ATGACCCCATCGAGGCTTCCCTGGTTGCTTAGCTGGGTCTCGGCCACGGCGTGGAGAGCGGCAAGATCACCCCTTCTGTGTCATTCTCTGAGGAAAACAAGTTCT
TCTCAAGGAGGAAAGTCTGAACTTGTCAAACAGTCCCTTAAGAAGCCGAAGTTACCAGAAGGTCGTTTTGATGCACCAGAGGATTCCCATTTAGAGAAAGAACCA
CTGGAAAAATTTCCAGATGATGTTAATCCAGTGACCAAAGAAAAAGGTGGACCCAGGGGCCCAGAACCTACCCGATATGGAGATTGGGAACGAAAAGGACGCTGT
ATTGATTTTTAA
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ATGACCCCATCGAGGCTTCCCTGGTTGCTTAGCTGGGTCTCGGCCACGGCGTGGAGAGCGGCAAGATCACCCCTTCTGTGTCATTCTCTGAGGAAAACAAGTTCT
TCTCAAGGAGGAAAGTCTGAACTTGTCAAACAGTCCCTTAAGAAGCCGAAGTTACCAGAAGGTCGTTTTGATGCACCAGAGGATTCCCATTTAGAGAAAGAACCA
CTGGAAAAATTTCCAGATGATGTTAATCCAGTGACCAAAGAAAAAGGTGGACCCAGGGGCCCAGAACCTACCCGATATGGAGATTGGGAACGAAAAGGACGCTGT
ATTGATTTTTAA
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>C6orf57|135154|protein
MTPSRLPWLLSWVSATAWRAARSPLLCHSLRKTSSSQGGKSELVKQSLKKPKLPEGRFDAPEDSHLEKEPLEKFPDDVNPVTKEKGGPRGPEPTRYGDWERKGRC
IDF
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MTPSRLPWLLSWVSATAWRAARSPLLCHSLRKTSSSQGGKSELVKQSLKKPKLPEGRFDAPEDSHLEKEPLEKFPDDVNPVTKEKGGPRGPEPTRYGDWERKGRC
IDF
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | ![]() | ![]() | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies Top
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