Evidence Details for ACAP2
Basic Information Top
| Gene Symbol: | ACAP2 ( CENTB2,CNT-B2,KIAA0041 ) |
|---|---|
| Gene Full Name: | ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 |
| Band: | 3q29 |
| Quick Links | Entrez ID:23527; OMIM: 607766; Uniprot ID:ACAP2_HUMAN; ENSEMBL ID: ENSG00000114331; HGNC ID: 16469 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ACAP2|23527|nucleotide
ATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGACTCGCCCCGCTTCAGGGCAGCTTTGGAAGAAGTAGAAGGTGATGTGGCAGAATTGGAACTAAAACTT
GATAAGCTTGTGAAACTTTGTATTGCAATGATTGATACTGGAAAAGCCTTTTGTGTTGCAAATAAACAGTTCATGAATGGGATTCGAGACCTGGCTCAGTATTCT
AGTAATGATGCTGTCGTTGAGACAAGTTTGACCAAGTTTTCTGACAGTCTTCAAGAAATGATAAATTTTCACACAATCCTGTTTGACCAAACTCAGAGATCAATT
AAGGCACAGCTTCAGAACTTTGTTAAAGAAGATCTTAGAAAATTCAAAGATGCCAAGAAGCAATTCGAAAAAGTCAGTGAAGAAAAAGAAAATGCGTTAGTAAAA
AATGCCCAAGTACAAAGAAACAAACAACATGAAGTTGAAGAAGCCACCAACATTCTGACAGCAACAAGAAAATGTTTCCGACACATAGCCCTCGATTATGTGCTT
CAGATTAATGTTCTTCAATCAAAAAGGAGATCAGAAATCCTAAAATCAATGTTGTCATTTATGTATGCCCATTTGGCCTTCTTTCATCAAGGATATGATCTGTTT
AGTGAACTTGGACCCTACATGAAGGATCTTGGTGCACAGTTGGATCGACTGGTTGTGGATGCAGCAAAGGAGAAAAGAGAAATGGAGCAAAAACATTCCACCATT
CAACAAAAGGATTTCTCCAGTGATGATTCTAAGTTAGAATATAACGTAGATGCTGCAAATGGCATAGTTATGGAAGGATATCTGTTCAAACGAGCCAGCAATGCC
TTCAAAACTTGGAACAGGCGCTGGTTTTCAATACAGAATAATCAGTTGGTTTACCAGAAAAAATTTAAGGATAATCCGACTGTGGTAGTTGAAGACCTCAGGCTT
TGCACAGTGAAACATTGTGAAGACATAGAGCGACGATTCTGCTTTGAGGTGGTCTCGCCAACAAAAAGTTGCATGCTCCAGGCAGATTCCGAAAAGCTGCGCCAG
GCATGGATTAAGGCTGTTCAGACCAGTATTGCTACTGCTTATAGAGAGAAGGGTGATGAATCAGAGAAGCTGGATAAGAAATCATCTCCATCCACAGGAAGCCTA
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ATGAAGATGACTGTGGATTTCGAGGAGTGTCTGAAGGACTCGCCCCGCTTCAGGGCAGCTTTGGAAGAAGTAGAAGGTGATGTGGCAGAATTGGAACTAAAACTT
GATAAGCTTGTGAAACTTTGTATTGCAATGATTGATACTGGAAAAGCCTTTTGTGTTGCAAATAAACAGTTCATGAATGGGATTCGAGACCTGGCTCAGTATTCT
AGTAATGATGCTGTCGTTGAGACAAGTTTGACCAAGTTTTCTGACAGTCTTCAAGAAATGATAAATTTTCACACAATCCTGTTTGACCAAACTCAGAGATCAATT
AAGGCACAGCTTCAGAACTTTGTTAAAGAAGATCTTAGAAAATTCAAAGATGCCAAGAAGCAATTCGAAAAAGTCAGTGAAGAAAAAGAAAATGCGTTAGTAAAA
AATGCCCAAGTACAAAGAAACAAACAACATGAAGTTGAAGAAGCCACCAACATTCTGACAGCAACAAGAAAATGTTTCCGACACATAGCCCTCGATTATGTGCTT
CAGATTAATGTTCTTCAATCAAAAAGGAGATCAGAAATCCTAAAATCAATGTTGTCATTTATGTATGCCCATTTGGCCTTCTTTCATCAAGGATATGATCTGTTT
AGTGAACTTGGACCCTACATGAAGGATCTTGGTGCACAGTTGGATCGACTGGTTGTGGATGCAGCAAAGGAGAAAAGAGAAATGGAGCAAAAACATTCCACCATT
CAACAAAAGGATTTCTCCAGTGATGATTCTAAGTTAGAATATAACGTAGATGCTGCAAATGGCATAGTTATGGAAGGATATCTGTTCAAACGAGCCAGCAATGCC
TTCAAAACTTGGAACAGGCGCTGGTTTTCAATACAGAATAATCAGTTGGTTTACCAGAAAAAATTTAAGGATAATCCGACTGTGGTAGTTGAAGACCTCAGGCTT
TGCACAGTGAAACATTGTGAAGACATAGAGCGACGATTCTGCTTTGAGGTGGTCTCGCCAACAAAAAGTTGCATGCTCCAGGCAGATTCCGAAAAGCTGCGCCAG
GCATGGATTAAGGCTGTTCAGACCAGTATTGCTACTGCTTATAGAGAGAAGGGTGATGAATCAGAGAAGCTGGATAAGAAATCATCTCCATCCACAGGAAGCCTA
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>ACAP2|23527|protein
MKMTVDFEECLKDSPRFRAALEEVEGDVAELELKLDKLVKLCIAMIDTGKAFCVANKQFMNGIRDLAQYSSNDAVVETSLTKFSDSLQEMINFHTILFDQTQRSI
KAQLQNFVKEDLRKFKDAKKQFEKVSEEKENALVKNAQVQRNKQHEVEEATNILTATRKCFRHIALDYVLQINVLQSKRRSEILKSMLSFMYAHLAFFHQGYDLF
SELGPYMKDLGAQLDRLVVDAAKEKREMEQKHSTIQQKDFSSDDSKLEYNVDAANGIVMEGYLFKRASNAFKTWNRRWFSIQNNQLVYQKKFKDNPTVVVEDLRL
CTVKHCEDIERRFCFEVVSPTKSCMLQADSEKLRQAWIKAVQTSIATAYREKGDESEKLDKKSSPSTGSLDSGNESKEKLLKGESALQRVQCIPGNASCCDCGLA
DPRWASINLGITLCIECSGIHRSLGVHFSKVRSLTLDTWEPELLKLMCELGNDVINRVYEANVEKMGIKKPQPGQRQEKEAYIRAKYVERKFVDKYSISLSPPEQ
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MKMTVDFEECLKDSPRFRAALEEVEGDVAELELKLDKLVKLCIAMIDTGKAFCVANKQFMNGIRDLAQYSSNDAVVETSLTKFSDSLQEMINFHTILFDQTQRSI
KAQLQNFVKEDLRKFKDAKKQFEKVSEEKENALVKNAQVQRNKQHEVEEATNILTATRKCFRHIALDYVLQINVLQSKRRSEILKSMLSFMYAHLAFFHQGYDLF
SELGPYMKDLGAQLDRLVVDAAKEKREMEQKHSTIQQKDFSSDDSKLEYNVDAANGIVMEGYLFKRASNAFKTWNRRWFSIQNNQLVYQKKFKDNPTVVVEDLRL
CTVKHCEDIERRFCFEVVSPTKSCMLQADSEKLRQAWIKAVQTSIATAYREKGDESEKLDKKSSPSTGSLDSGNESKEKLLKGESALQRVQCIPGNASCCDCGLA
DPRWASINLGITLCIECSGIHRSLGVHFSKVRSLTLDTWEPELLKLMCELGNDVINRVYEANVEKMGIKKPQPGQRQEKEAYIRAKYVERKFVDKYSISLSPPEQ
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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 (1) | 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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies Top