Evidence Details for PARVG
Basic Information Top
| Gene Symbol: | PARVG ( - ) |
|---|---|
| Gene Full Name: | parvin, gamma |
| Band: | 22q13.31 |
| Quick Links | Entrez ID:64098; OMIM: 608122; Uniprot ID:PARVG_HUMAN; ENSEMBL ID: ENSG00000138964; HGNC ID: 14654 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PARVG|64098|nucleotide
ATGGAGCCGGAGTTCTTGTACGACCTGCTGCAGCTCCCCAAGGGGGTGGAGCCCCCAGCGGAGGAGGAGCTCTCAAAAGGAGGAAAGAAGAAATACCTGCCACCC
ACTTCCCGGAAGGACCCCAAATTTGAAGAACTGCAGAAGGTGTTGATGGAGTGGATCAATGCCACTCTTCTCCCCGAGCACATTGTGGTCCGCAGCCTGGAGGAG
GACATGTTCGACGGGCTCATCCTACACCACCTATTCCAGAGGCTGGCGGCGCTCAAGCTGGAAGCAGAGGACATCGCCCTGACAGCCACAAGCCAGAAGCACAAG
CTCACAGTGGTGCTGGAGGCCGTGAACCGGAGTCTGCAGCTGGAGGAGTGGCAGGCCAAGTGGAGCGTGGAGAGCATCTTCAACAAGGACCTGTTGTCTACCCTG
CACCTCCTTGTGGCCCTGGCCAAGCGCTTCCAGCCCGACCTCTCCCTCCCAACCAACGTCCAGGTGGAGGTCATCACTATCGAGAGCACCAAAAGTGGTCTGAAG
TCAGAGAAGTTGGTGGAACAGCTCACTGAATACAGCACAGACAAGGACGAGCCTCCAAAGGACGTCTTTGATGAATTATTTAAGCTGGCTCCGGAGAAAGTGAAC
GCAGTGAAAGAGGCCATCGTGAACTTTGTCAACCAGAAGCTGGACCGCCTGGGCCTGTCTGTGCAGAATCTGGACACCCAGTTTGCAGATGGGGTCATCTTACTC
TTGCTGATTGGACAACTTGAAGGCTTCTTCCTGCACTTAAAGGAATTCTACCTCACTCCCAACTCTCCTGCAGAAATGCTGCACAACGTCACCCTGGCGCTGGAG
CTGCTGAAGGACGAGGGCCTGCTCAGCTGCCCTGTCAGCCCTGAAGATATCGTGAACAAGGATGCCAAGAGCACACTGAGGGTGCTCTATGGTCTGTTCTGCAAG
CACACGCAGAAGGCACACAGGGACAGGACGCCCCATGGAGCCCCGAATTGA
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ATGGAGCCGGAGTTCTTGTACGACCTGCTGCAGCTCCCCAAGGGGGTGGAGCCCCCAGCGGAGGAGGAGCTCTCAAAAGGAGGAAAGAAGAAATACCTGCCACCC
ACTTCCCGGAAGGACCCCAAATTTGAAGAACTGCAGAAGGTGTTGATGGAGTGGATCAATGCCACTCTTCTCCCCGAGCACATTGTGGTCCGCAGCCTGGAGGAG
GACATGTTCGACGGGCTCATCCTACACCACCTATTCCAGAGGCTGGCGGCGCTCAAGCTGGAAGCAGAGGACATCGCCCTGACAGCCACAAGCCAGAAGCACAAG
CTCACAGTGGTGCTGGAGGCCGTGAACCGGAGTCTGCAGCTGGAGGAGTGGCAGGCCAAGTGGAGCGTGGAGAGCATCTTCAACAAGGACCTGTTGTCTACCCTG
CACCTCCTTGTGGCCCTGGCCAAGCGCTTCCAGCCCGACCTCTCCCTCCCAACCAACGTCCAGGTGGAGGTCATCACTATCGAGAGCACCAAAAGTGGTCTGAAG
TCAGAGAAGTTGGTGGAACAGCTCACTGAATACAGCACAGACAAGGACGAGCCTCCAAAGGACGTCTTTGATGAATTATTTAAGCTGGCTCCGGAGAAAGTGAAC
GCAGTGAAAGAGGCCATCGTGAACTTTGTCAACCAGAAGCTGGACCGCCTGGGCCTGTCTGTGCAGAATCTGGACACCCAGTTTGCAGATGGGGTCATCTTACTC
TTGCTGATTGGACAACTTGAAGGCTTCTTCCTGCACTTAAAGGAATTCTACCTCACTCCCAACTCTCCTGCAGAAATGCTGCACAACGTCACCCTGGCGCTGGAG
CTGCTGAAGGACGAGGGCCTGCTCAGCTGCCCTGTCAGCCCTGAAGATATCGTGAACAAGGATGCCAAGAGCACACTGAGGGTGCTCTATGGTCTGTTCTGCAAG
CACACGCAGAAGGCACACAGGGACAGGACGCCCCATGGAGCCCCGAATTGA
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>PARVG|64098|protein
MEPEFLYDLLQLPKGVEPPAEEELSKGGKKKYLPPTSRKDPKFEELQKVLMEWINATLLPEHIVVRSLEEDMFDGLILHHLFQRLAALKLEAEDIALTATSQKHK
LTVVLEAVNRSLQLEEWQAKWSVESIFNKDLLSTLHLLVALAKRFQPDLSLPTNVQVEVITIESTKSGLKSEKLVEQLTEYSTDKDEPPKDVFDELFKLAPEKVN
AVKEAIVNFVNQKLDRLGLSVQNLDTQFADGVILLLLIGQLEGFFLHLKEFYLTPNSPAEMLHNVTLALELLKDEGLLSCPVSPEDIVNKDAKSTLRVLYGLFCK
HTQKAHRDRTPHGAPN
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MEPEFLYDLLQLPKGVEPPAEEELSKGGKKKYLPPTSRKDPKFEELQKVLMEWINATLLPEHIVVRSLEEDMFDGLILHHLFQRLAALKLEAEDIALTATSQKHK
LTVVLEAVNRSLQLEEWQAKWSVESIFNKDLLSTLHLLVALAKRFQPDLSLPTNVQVEVITIESTKSGLKSEKLVEQLTEYSTDKDEPPKDVFDELFKLAPEKVN
AVKEAIVNFVNQKLDRLGLSVQNLDTQFADGVILLLLIGQLEGFFLHLKEFYLTPNSPAEMLHNVTLALELLKDEGLLSCPVSPEDIVNKDAKSTLRVLYGLFCK
HTQKAHRDRTPHGAPN
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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 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Goizet, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Chen, 2011 | - | FISH, aCGH | - | - | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top