Evidence Details for KHDRBS3
Basic Information Top
| Gene Symbol: | KHDRBS3 ( Etle,SALP,SLM-2,SLM2,T-STAR,TSTAR,etoile ) |
|---|---|
| Gene Full Name: | KH domain containing, RNA binding, signal transduction associated 3 |
| Band: | 8q24.23 |
| Quick Links | Entrez ID:10656; OMIM: 610421; Uniprot ID:KHDR3_HUMAN; ENSEMBL ID: ENSG00000131773; HGNC ID: 18117 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>KHDRBS3|10656|nucleotide
ATGGAGGAGAAGTACCTGCCCGAGCTGATGGCGGAGAAGGACTCCCTGGACCCCTCCTTCACGCACGCCCTGCGCCTGGTGAACCAAGAAATAGAAAAGTTTCAA
AAAGGAGAAGGCAAGGATGAAGAAAAGTACATCGATGTGGTGATTAATAAGAACATGAAGCTGGGACAGAAAGTGTTAATTCCCGTAAAACAGTTCCCTAAGTTC
AACTTTGTGGGGAAACTTTTGGGTCCACGTGGCAATTCTCTGAAGCGTTTACAAGAAGAAACCTTGACAAAAATGTCCATCCTTGGGAAAGGTTCCATGAGAGAC
AAGGCCAAGGAAGAAGAGTTGAGGAAAAGTGGAGAAGCGAAGTACTTCCATCTCAATGATGATCTCCATGTTCTCATTGAAGTGTTTGCCCCACCTGCAGAAGCT
TATGCCAGGATGGGACATGCTTTGGAAGAAATCAAAAAGTTCCTCATCCCTGATTATAATGATGAGATCAGGCAAGCACAGCTCCAGGAGTTAACATATTTGAAT
GGTGGTTCAGAAAATGCAGATGTTCCAGTGGTTCGAGGGAAACCCACCTTGCGTACAAGAGGTGTACCAGCCCCAGCAATAACCAGGGGAAGGGGAGGAGTTACA
GCCCGGCCAGTTGGAGTTGTAGTACCACGAGGGACGCCAACTCCCAGAGGAGTCCTGTCCACCCGAGGGCCAGTGAGTCGGGGAAGAGGACTTCTCACTCCCAGA
GCAAGAGGAGTCCCCCCAACTGGGTACAGACCTCCACCGCCACCCCCGACACAAGAGACTTATGGAGAATATGACTATGATGATGGATATGGCACTGCTTATGAT
GAACAGAGTTATGATTCCTATGATAACAGCTATAGCACCCCAGCCCAAAGTGGTGCTGATTACTATGATTACGGACATGGACTCAGTGAGGAGACTTATGATTCC
TACGGGCAAGAAGAGTGGACTAACTCAAGACACAAGGCACCTTCAGCGAGGACAGCAAAGGGCGTCTACAGAGACCAGCCATATGGCAGATACTGA
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ATGGAGGAGAAGTACCTGCCCGAGCTGATGGCGGAGAAGGACTCCCTGGACCCCTCCTTCACGCACGCCCTGCGCCTGGTGAACCAAGAAATAGAAAAGTTTCAA
AAAGGAGAAGGCAAGGATGAAGAAAAGTACATCGATGTGGTGATTAATAAGAACATGAAGCTGGGACAGAAAGTGTTAATTCCCGTAAAACAGTTCCCTAAGTTC
AACTTTGTGGGGAAACTTTTGGGTCCACGTGGCAATTCTCTGAAGCGTTTACAAGAAGAAACCTTGACAAAAATGTCCATCCTTGGGAAAGGTTCCATGAGAGAC
AAGGCCAAGGAAGAAGAGTTGAGGAAAAGTGGAGAAGCGAAGTACTTCCATCTCAATGATGATCTCCATGTTCTCATTGAAGTGTTTGCCCCACCTGCAGAAGCT
TATGCCAGGATGGGACATGCTTTGGAAGAAATCAAAAAGTTCCTCATCCCTGATTATAATGATGAGATCAGGCAAGCACAGCTCCAGGAGTTAACATATTTGAAT
GGTGGTTCAGAAAATGCAGATGTTCCAGTGGTTCGAGGGAAACCCACCTTGCGTACAAGAGGTGTACCAGCCCCAGCAATAACCAGGGGAAGGGGAGGAGTTACA
GCCCGGCCAGTTGGAGTTGTAGTACCACGAGGGACGCCAACTCCCAGAGGAGTCCTGTCCACCCGAGGGCCAGTGAGTCGGGGAAGAGGACTTCTCACTCCCAGA
GCAAGAGGAGTCCCCCCAACTGGGTACAGACCTCCACCGCCACCCCCGACACAAGAGACTTATGGAGAATATGACTATGATGATGGATATGGCACTGCTTATGAT
GAACAGAGTTATGATTCCTATGATAACAGCTATAGCACCCCAGCCCAAAGTGGTGCTGATTACTATGATTACGGACATGGACTCAGTGAGGAGACTTATGATTCC
TACGGGCAAGAAGAGTGGACTAACTCAAGACACAAGGCACCTTCAGCGAGGACAGCAAAGGGCGTCTACAGAGACCAGCCATATGGCAGATACTGA
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>KHDRBS3|10656|protein
MEEKYLPELMAEKDSLDPSFTHALRLVNQEIEKFQKGEGKDEEKYIDVVINKNMKLGQKVLIPVKQFPKFNFVGKLLGPRGNSLKRLQEETLTKMSILGKGSMRD
KAKEEELRKSGEAKYFHLNDDLHVLIEVFAPPAEAYARMGHALEEIKKFLIPDYNDEIRQAQLQELTYLNGGSENADVPVVRGKPTLRTRGVPAPAITRGRGGVT
ARPVGVVVPRGTPTPRGVLSTRGPVSRGRGLLTPRARGVPPTGYRPPPPPPTQETYGEYDYDDGYGTAYDEQSYDSYDNSYSTPAQSGADYYDYGHGLSEETYDS
YGQEEWTNSRHKAPSARTAKGVYRDQPYGRY
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MEEKYLPELMAEKDSLDPSFTHALRLVNQEIEKFQKGEGKDEEKYIDVVINKNMKLGQKVLIPVKQFPKFNFVGKLLGPRGNSLKRLQEETLTKMSILGKGSMRD
KAKEEELRKSGEAKYFHLNDDLHVLIEVFAPPAEAYARMGHALEEIKKFLIPDYNDEIRQAQLQELTYLNGGSENADVPVVRGKPTLRTRGVPAPAITRGRGGVT
ARPVGVVVPRGTPTPRGVLSTRGPVSRGRGLLTPRARGVPPTGYRPPPPPPTQETYGEYDYDDGYGTAYDEQSYDSYDNSYSTPAQSGADYYDYGHGLSEETYDS
YGQEEWTNSRHKAPSARTAKGVYRDQPYGRY
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Evidence summary TopClick 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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top