Evidence Details for AGAP7
Basic Information Top
| Gene Symbol: | AGAP7 ( CTGLF4,bA109G10.1 ) |
|---|---|
| Gene Full Name: | ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 |
| Band: | 10q11.23 |
| Quick Links | Entrez ID:653268; OMIM: NA; Uniprot ID:AGAP7_HUMAN; ENSEMBL ID: ENSG00000204169; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AGAP7|653268|nucleotide
ATGGGGAACATACTGACCTGTCGTGTGCACCCTAGCGTCAGCCTCGAGTTTGACCAGCAGCAGGGGTCGGTGTGTCCCTCTGAATCTGAGATCTATGAGGCAGGA
GCTGAGGACAGGATGGCAGGAGCGCCCATGGCTGCTGCTGTACAGCCTGCTGAGGTGACTGTTGAAGTTGGTGAGGACCTCCACATGCACCACGTTCGTGACCGG
GAGATGCCTGAAGCTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATGTTGTAGAAATAAGAAGAAGCAAC
TGTACAAACCATGTATCTACTGTGCATTTCAGTCAACAATACAGCTTGTGTTCGACAATATTCCTTGATGACAGCACAGCCATCCAGCATTATCTTACAATGACA
ATAATATCTGTGACCTTGGAGATACCTCATCATATCACACAAAGAGATGCAGATAGATCTTTGAGCATACCTGATGAACAGTTACACTCATTTGCGGTTTCCACC
GTGCACATTACGAAGAACAGAAATGGAGGTGGGAGTTTAAATAACTATTCCTCCTCCATTCCATCGACTCCCAGCACCAGCCAGGAGGACCCTCAGTTCAGTGTT
CCTCCCACTGCCAACACACCCACCCCCGTTTGCAAGCGGTCCATGCGCTGGTCCAACCTGTTTACATCTGAGAAAGGGAGTGACCCAGACAAAGAGAGGAAAGCC
CCGGAGAATCATGCTGACACCATCGGGAGCGGCAGAGCCATCCCCATTAAACAGGGCATGCTCTTAAAGCGAAGTGGGAAATGGCTGAAGACATGGAAAAAGAAA
TACGTCACCCTGTGTTCCAATGGTGTGCTCACCTATTATTCAAGCTTAGGTGATTATATGAAGTATATTCATAAAAAAGAGATTGACCTTCAGACATCTACCATC
AAAGTCCCAGGAAAGTGGCCATCCCTAGCCACATTGGCCTGCACACCCATCTCCAGCTCTAAAAGCGATGGCCTATCCAAGGACATGGACACCGGGCTGGGTGAC
TCCATATGCTTCAGCCCCAGTATCTCCAGCACCACCATCCCCAAGCTCAACCCGCCCCCCTCTCCTCATGCCAATAAAAAGAAACACCTAAAGAAGAAAAGCACC
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ATGGGGAACATACTGACCTGTCGTGTGCACCCTAGCGTCAGCCTCGAGTTTGACCAGCAGCAGGGGTCGGTGTGTCCCTCTGAATCTGAGATCTATGAGGCAGGA
GCTGAGGACAGGATGGCAGGAGCGCCCATGGCTGCTGCTGTACAGCCTGCTGAGGTGACTGTTGAAGTTGGTGAGGACCTCCACATGCACCACGTTCGTGACCGG
GAGATGCCTGAAGCTTTGGAGTTTAACCCTTCTGCCAATCCAGAGGCAAGCACAATATTCCAGAGGAACTCTCAAACAGATGTTGTAGAAATAAGAAGAAGCAAC
TGTACAAACCATGTATCTACTGTGCATTTCAGTCAACAATACAGCTTGTGTTCGACAATATTCCTTGATGACAGCACAGCCATCCAGCATTATCTTACAATGACA
ATAATATCTGTGACCTTGGAGATACCTCATCATATCACACAAAGAGATGCAGATAGATCTTTGAGCATACCTGATGAACAGTTACACTCATTTGCGGTTTCCACC
GTGCACATTACGAAGAACAGAAATGGAGGTGGGAGTTTAAATAACTATTCCTCCTCCATTCCATCGACTCCCAGCACCAGCCAGGAGGACCCTCAGTTCAGTGTT
CCTCCCACTGCCAACACACCCACCCCCGTTTGCAAGCGGTCCATGCGCTGGTCCAACCTGTTTACATCTGAGAAAGGGAGTGACCCAGACAAAGAGAGGAAAGCC
CCGGAGAATCATGCTGACACCATCGGGAGCGGCAGAGCCATCCCCATTAAACAGGGCATGCTCTTAAAGCGAAGTGGGAAATGGCTGAAGACATGGAAAAAGAAA
TACGTCACCCTGTGTTCCAATGGTGTGCTCACCTATTATTCAAGCTTAGGTGATTATATGAAGTATATTCATAAAAAAGAGATTGACCTTCAGACATCTACCATC
AAAGTCCCAGGAAAGTGGCCATCCCTAGCCACATTGGCCTGCACACCCATCTCCAGCTCTAAAAGCGATGGCCTATCCAAGGACATGGACACCGGGCTGGGTGAC
TCCATATGCTTCAGCCCCAGTATCTCCAGCACCACCATCCCCAAGCTCAACCCGCCCCCCTCTCCTCATGCCAATAAAAAGAAACACCTAAAGAAGAAAAGCACC
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>AGAP7|653268|protein
MGNILTCRVHPSVSLEFDQQQGSVCPSESEIYEAGAEDRMAGAPMAAAVQPAEVTVEVGEDLHMHHVRDREMPEALEFNPSANPEASTIFQRNSQTDVVEIRRSN
CTNHVSTVHFSQQYSLCSTIFLDDSTAIQHYLTMTIISVTLEIPHHITQRDADRSLSIPDEQLHSFAVSTVHITKNRNGGGSLNNYSSSIPSTPSTSQEDPQFSV
PPTANTPTPVCKRSMRWSNLFTSEKGSDPDKERKAPENHADTIGSGRAIPIKQGMLLKRSGKWLKTWKKKYVTLCSNGVLTYYSSLGDYMKYIHKKEIDLQTSTI
KVPGKWPSLATLACTPISSSKSDGLSKDMDTGLGDSICFSPSISSTTIPKLNPPPSPHANKKKHLKKKSTNNFMIVSATGQTWHFEATTYEERDAWVQAIQSQIL
ASLQSCESSKSKSQLTSQSEAMALQSIQNMRGNAHCVDCETQNPKWASLNLGVLMCIECSGIHRSLGTRLSRVRSLELDDWPVELRKVMSSIGNDLANSIWEGSS
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MGNILTCRVHPSVSLEFDQQQGSVCPSESEIYEAGAEDRMAGAPMAAAVQPAEVTVEVGEDLHMHHVRDREMPEALEFNPSANPEASTIFQRNSQTDVVEIRRSN
CTNHVSTVHFSQQYSLCSTIFLDDSTAIQHYLTMTIISVTLEIPHHITQRDADRSLSIPDEQLHSFAVSTVHITKNRNGGGSLNNYSSSIPSTPSTSQEDPQFSV
PPTANTPTPVCKRSMRWSNLFTSEKGSDPDKERKAPENHADTIGSGRAIPIKQGMLLKRSGKWLKTWKKKYVTLCSNGVLTYYSSLGDYMKYIHKKEIDLQTSTI
KVPGKWPSLATLACTPISSSKSDGLSKDMDTGLGDSICFSPSISSTTIPKLNPPPSPHANKKKHLKKKSTNNFMIVSATGQTWHFEATTYEERDAWVQAIQSQIL
ASLQSCESSKSKSQLTSQSEAMALQSIQNMRGNAHCVDCETQNPKWASLNLGVLMCIECSGIHRSLGTRLSRVRSLELDDWPVELRKVMSSIGNDLANSIWEGSS
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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) | 0 (2) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 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 | ||||||
| Sebat, 2007 | USA | aCGH |  |  | autism | 165 | 118 | 47 | 99 | 195 | 196 | 391 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top