Evidence Details for ACAP1
Basic Information Top
| Gene Symbol: | ACAP1 ( CENTB1,KIAA0050 ) |
|---|---|
| Gene Full Name: | ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 |
| Band: | 17p13.1 |
| Quick Links | Entrez ID:9744; OMIM: 607763; Uniprot ID:ACAP1_HUMAN; ENSEMBL ID: ENSG00000072818; HGNC ID: 16467 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ACAP1|9744|nucleotide
ATGACGGTCAAGCTGGATTTCGAGGAGTGTCTCAAGGACTCACCCCGTTTCCGAGCCTCTATTGAGCTGGTGGAAGCCGAAGTGTCAGAATTGGAGACCCGTCTG
GAAAAGCTCCTGAAACTGGGCACTGGTCTCCTGGAAAGTGGGCGCCATTACCTTGCTGCCAGCCGCGCCTTCGTTGTCGGCATTTGTGACCTGGCCCGCCTGGGT
CCACCAGAGCCCATGATGGCGGAGTGTCTGGAAAAATTCACCGTGAGCCTGAACCACAAGCTGGACAGCCATGCGGAGCTTCTAGATGCCACCCAACACACACTG
CAGCAGCAGATCCAGACCCTGGTCAAGGAAGGTCTGCGGGGTTTCCGAGAGGCTCGCCGGGATTTCTGGCGGGGGGCTGAGAGCCTGGAGGCTGCCCTGACCCAC
AACGCAGAGGTTCCCAGGCGCCGGGCCCAGGAGGCAGAAGAGGCAGGAGCTGCTTTGAGGACGGCTCGAGCTGGGTACCGGGGACGGGCACTGGATTATGCCCTG
CAGATCAACGTGATTGAGGACAAGAGGAAGTTTGACATCATGGAGTTTGTGCTGCGTTTGGTGGAGGCCCAGGCTACCCATTTCCAGCAGGGCCATGAGGAGCTG
AGCCGGCTGTCCCAGTATCGAAAGGAGCTGGGCGCCCAGTTGCACCAGCTGGTCTTGAATTCAGCACGAGAGAAGAGGGACATGGAGCAGAGACACGTGCTGCTG
AAACAGAAGGAGCTGGGTGGGGAGGAGCCAGAACCAAGCTTAAGAGAGGGGCCTGGTGGCCTGGTGATGGAAGGACATCTCTTCAAACGGGCCAGCAACGCATTT
AAGACCTGGAGCAGACGCTGGTTCACCATTCAGAGCAACCAACTGGTTTACCAGAAGAAGTACAAGGACCCTGTGACTGTGGTGGTGGATGACCTTCGTCTCTGC
ACAGTGAAACTCTGCCCTGACTCAGAAAGGCGGTTCTGCTTTGAGGTGGTGTCCACCAGCAAGTCCTGCCTCCTCCAGGCTGACTCAGAGCGCCTCCTGCAGCTG
TGGGTCAGTGCTGTGCAGAGCAGCATTGCTTCTGCCTTCAGTCAGGCTCGCCTTGATGACAGCCCCCGGGGTCCAGGCCAGGGCTCAGGACACCTGGCCATAGGC
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ATGACGGTCAAGCTGGATTTCGAGGAGTGTCTCAAGGACTCACCCCGTTTCCGAGCCTCTATTGAGCTGGTGGAAGCCGAAGTGTCAGAATTGGAGACCCGTCTG
GAAAAGCTCCTGAAACTGGGCACTGGTCTCCTGGAAAGTGGGCGCCATTACCTTGCTGCCAGCCGCGCCTTCGTTGTCGGCATTTGTGACCTGGCCCGCCTGGGT
CCACCAGAGCCCATGATGGCGGAGTGTCTGGAAAAATTCACCGTGAGCCTGAACCACAAGCTGGACAGCCATGCGGAGCTTCTAGATGCCACCCAACACACACTG
CAGCAGCAGATCCAGACCCTGGTCAAGGAAGGTCTGCGGGGTTTCCGAGAGGCTCGCCGGGATTTCTGGCGGGGGGCTGAGAGCCTGGAGGCTGCCCTGACCCAC
AACGCAGAGGTTCCCAGGCGCCGGGCCCAGGAGGCAGAAGAGGCAGGAGCTGCTTTGAGGACGGCTCGAGCTGGGTACCGGGGACGGGCACTGGATTATGCCCTG
CAGATCAACGTGATTGAGGACAAGAGGAAGTTTGACATCATGGAGTTTGTGCTGCGTTTGGTGGAGGCCCAGGCTACCCATTTCCAGCAGGGCCATGAGGAGCTG
AGCCGGCTGTCCCAGTATCGAAAGGAGCTGGGCGCCCAGTTGCACCAGCTGGTCTTGAATTCAGCACGAGAGAAGAGGGACATGGAGCAGAGACACGTGCTGCTG
AAACAGAAGGAGCTGGGTGGGGAGGAGCCAGAACCAAGCTTAAGAGAGGGGCCTGGTGGCCTGGTGATGGAAGGACATCTCTTCAAACGGGCCAGCAACGCATTT
AAGACCTGGAGCAGACGCTGGTTCACCATTCAGAGCAACCAACTGGTTTACCAGAAGAAGTACAAGGACCCTGTGACTGTGGTGGTGGATGACCTTCGTCTCTGC
ACAGTGAAACTCTGCCCTGACTCAGAAAGGCGGTTCTGCTTTGAGGTGGTGTCCACCAGCAAGTCCTGCCTCCTCCAGGCTGACTCAGAGCGCCTCCTGCAGCTG
TGGGTCAGTGCTGTGCAGAGCAGCATTGCTTCTGCCTTCAGTCAGGCTCGCCTTGATGACAGCCCCCGGGGTCCAGGCCAGGGCTCAGGACACCTGGCCATAGGC
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>ACAP1|9744|protein
MTVKLDFEECLKDSPRFRASIELVEAEVSELETRLEKLLKLGTGLLESGRHYLAASRAFVVGICDLARLGPPEPMMAECLEKFTVSLNHKLDSHAELLDATQHTL
QQQIQTLVKEGLRGFREARRDFWRGAESLEAALTHNAEVPRRRAQEAEEAGAALRTARAGYRGRALDYALQINVIEDKRKFDIMEFVLRLVEAQATHFQQGHEEL
SRLSQYRKELGAQLHQLVLNSAREKRDMEQRHVLLKQKELGGEEPEPSLREGPGGLVMEGHLFKRASNAFKTWSRRWFTIQSNQLVYQKKYKDPVTVVVDDLRLC
TVKLCPDSERRFCFEVVSTSKSCLLQADSERLLQLWVSAVQSSIASAFSQARLDDSPRGPGQGSGHLAIGSAATLGSGGMARGREPGGVGHVVAQVQSVDGNAQC
CDCREPAPEWASINLGVTLCIQCSGIHRSLGVHFSKVRSLTLDSWEPELVKLMCELGNVIINQIYEARVEAMAVKKPGPSCSRQEKEAWIHAKYVEKKFLTKLPE
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MTVKLDFEECLKDSPRFRASIELVEAEVSELETRLEKLLKLGTGLLESGRHYLAASRAFVVGICDLARLGPPEPMMAECLEKFTVSLNHKLDSHAELLDATQHTL
QQQIQTLVKEGLRGFREARRDFWRGAESLEAALTHNAEVPRRRAQEAEEAGAALRTARAGYRGRALDYALQINVIEDKRKFDIMEFVLRLVEAQATHFQQGHEEL
SRLSQYRKELGAQLHQLVLNSAREKRDMEQRHVLLKQKELGGEEPEPSLREGPGGLVMEGHLFKRASNAFKTWSRRWFTIQSNQLVYQKKYKDPVTVVVDDLRLC
TVKLCPDSERRFCFEVVSTSKSCLLQADSERLLQLWVSAVQSSIASAFSQARLDDSPRGPGQGSGHLAIGSAATLGSGGMARGREPGGVGHVVAQVQSVDGNAQC
CDCREPAPEWASINLGVTLCIQCSGIHRSLGVHFSKVRSLTLDSWEPELVKLMCELGNVIINQIYEARVEAMAVKKPGPSCSRQEKEAWIHAKYVEKKFLTKLPE
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (5) |
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 | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top