AutismKB 2.0

Evidence Details for ACAP3


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Basic Information Top
Gene Symbol:ACAP3 ( CENTB5,KIAA1716 )
Gene Full Name: ArfGAP with coiled-coil, ankyrin repeat and PH domains 3
Band: 1p36.33
Quick LinksEntrez ID:116983; OMIM: NA; Uniprot ID:ACAP3_HUMAN; ENSEMBL ID: ENSG00000131584; HGNC ID: 16754
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ACAP3|116983|nucleotide
ATGACCGTGGAGTTCGAGGAGTGCGTCAAGGACTCCCCGCGCTTCAGGGCGACCATTGACGAGGTGGAGACGGACGTGGTGGAGATTGAGGCCAAACTGGACAAG
CTGGTGAAGCTGTGCAGTGGCATGGTGGAAGCCGGTAAGGCCTACGTCAGCACCAGCAGGCTTTTCGTGAGCGGCGTCCGCGACCTGTCCCAGCAGTGCCAGGGC
GACACCGTCATCTCGGAATGTCTGCAGAGGTTCGCTGACAGCCTACAGGAGGTGGTGAACTACCACATGATCCTGTTTGACCAGGCCCAGAGGTCCGTGCGGCAG
CAGCTCCAGAGCTTTGTCAAAGAGGATGTGCGGAAGTTCAAGGAGACAAAGAAGCAGTTTGACAAGGTGCGGGAGGACCTGGAGCTGTCCCTGGTGAGGAACGCC
CAGGCCCCGAGGCACCGGCCCCACGAGGTGGAGGAAGCCACCGGGGCCCTCACCCTCACCAGGAAGTGCTTCCGCCACCTGGCACTGGACTATGTGCTCCAGATC
AATGTTCTGCAGGCCAAGAAGAAGTTTGAGATCCTGGACTCTATGCTGTCCTTCATGCACGCCCAGTCCAGCTTCTTCCAGCAGGGCTACAGCCTCCTGCACCAG
CTGGACCCCTACATGAAGAAGCTGGCAGCCGAGCTGGACCAGCTGGTGATCGACTCTGCGGTGGAAAAGCGTGAGATGGAGCGAAAGCACGCCGCCATCCAGCAG
CGGACGCTGCTGCAGGACTTCTCCTACGATGAGTCCAAAGTGGAGTTTGACGTGGACGCGCCCAGTGGGGTGGTGATGGAGGGCTACCTCTTCAAGAGGGCCAGC
AACGCTTTCAAGACATGGAACCGGCGCTGGTTCTCCATTCAGAACAGCCAGCTGGTCTACCAGAAGAAGCTCAAGGATGCCCTCACCGTGGTGGTGGATGACCTC
CGCCTGTGCTCTGTGAAGCCGTGTGAGGACATCGAGCGGAGGTTCTGCTTCGAGGTGCTGTCACCCACCAAGAGCTGCATGCTGCAGGCTGACTCCGAGAAGCTG
CGGCAAGCCTGGGTCCAGGCTGTGCAGGCCAGCATCGCCTCCGCCTACCGCGAGAGCCCTGACAGTTGCTATAGCGAGAGGCTGGACCGCACAGCATCCCCGTCC
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>ACAP3|116983|protein
MTVEFEECVKDSPRFRATIDEVETDVVEIEAKLDKLVKLCSGMVEAGKAYVSTSRLFVSGVRDLSQQCQGDTVISECLQRFADSLQEVVNYHMILFDQAQRSVRQ
QLQSFVKEDVRKFKETKKQFDKVREDLELSLVRNAQAPRHRPHEVEEATGALTLTRKCFRHLALDYVLQINVLQAKKKFEILDSMLSFMHAQSSFFQQGYSLLHQ
LDPYMKKLAAELDQLVIDSAVEKREMERKHAAIQQRTLLQDFSYDESKVEFDVDAPSGVVMEGYLFKRASNAFKTWNRRWFSIQNSQLVYQKKLKDALTVVVDDL
RLCSVKPCEDIERRFCFEVLSPTKSCMLQADSEKLRQAWVQAVQASIASAYRESPDSCYSERLDRTASPSTSSIDSATDTRERGVKGESVLQRVQSVAGNSQCGD
CGQPDPRWASINLGVLLCIECSGIHRSLGVHCSKVRSLTLDSWEPELLKLMCELGNSAVNQIYEAQCEGAGSRKPTASSSRQDKEAWIKDKYVEKKFLRKAPMAP
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Evidence summary Top

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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 (1) 0 (0) 0 (0) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top