Evidence Details for ACTL7A
Basic Information Top
Gene Symbol: | ACTL7A ( - ) |
---|---|
Gene Full Name: | actin-like 7A |
Band: | 9q31.3 |
Quick Links | Entrez ID:10881; OMIM: 604303; Uniprot ID:ACL7A_HUMAN; ENSEMBL ID: ENSG00000187003; HGNC ID: 161 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ACTL7A|10881|nucleotide
ATGTGGGCTCCACCAGCAGCAATCATGGGGGATGGGCCCACCAAGAAGGTGGGCAACCAGGCCCCCCTGCAGACACAGGCCCTCCAGACTGCCTCTTTAAGGGAT
GGCCCGGCGAAGCGGGCCGTGTGGGTCCGCCATACGAGTTCAGAGCCACAAGAACCTACTGAATCAAAGGCAGCCAAGGAGAGGCCCAAGCAGGAGGTGACCAAA
GCAGTGGTCGTGGACCTGGGCACTGGCTACTGTAAATGTGGCTTTGCCGGCCTGCCAAGACCCACCCACAAGATCTCAACAACGGTGGGCAAGCCCTACATGGAG
ACCGCCAAGACTGGGGATAATCGCAAGGAGACATTCGTGGGGCAGGAACTCAACAACACAAACGTTCATCTCAAGCTGGTTAACCCTCTGCGACATGGCATCATC
GTGGACTGGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATCGCCCCGGAGGAGCATGCGGTCTTGGTTTCAGACCCGCCACTGAGC
CCACACACCAACAGAGAGAAATATGCTGAAATGCTGTTTGAAGCCTTCAACACCCCTGCAATGCACATCGCCTACCAGTCGCGCCTGTCCATGTACTCCTATGGA
AGGACCTCCGGCCTGGTGGTGGAGGTGGGCCATGGCGTGTCCTACGTGGTCCCCATCTACGAGGGTTATCCTTTGCCCAGCATCACCGGAAGGCTGGACTACGCG
GGCTCTGACCTGACAGCCTACCTGCTGGGCCTGCTGAACAGTGCGGGGAACGAATTCACCCAGGACCAGATGGGCATCGTGGAGGACATCAAGAAGAAATGCTGC
TTTGTGGCCCTGGATCCCATTGAGGAGAAGAAAGTCCCTCTCAGTGAGCATACGATCCGCTACGTGCTGCCGGATGGGAAGGAGATTCAGCTGTGCCAGGAACGG
TTCCTCTGCTCGGAGATGTTCTTCAAGCCATCTCTCATCAAGTCCATGCAGCTGGGCCTCCACACCCAAACCGTGTCCTGCCTTAACAAGTGTGACATCGCCCTC
AAACGGGACCTCATGGGGAACATCCTGCTCTGCGGGGGCAGCACGATGCTCAGTGGCTTCCCTAACCGTCTGCAGAAGGAGCTAAGCAGCATGTGTCCCAATGAC
Show »
ATGTGGGCTCCACCAGCAGCAATCATGGGGGATGGGCCCACCAAGAAGGTGGGCAACCAGGCCCCCCTGCAGACACAGGCCCTCCAGACTGCCTCTTTAAGGGAT
GGCCCGGCGAAGCGGGCCGTGTGGGTCCGCCATACGAGTTCAGAGCCACAAGAACCTACTGAATCAAAGGCAGCCAAGGAGAGGCCCAAGCAGGAGGTGACCAAA
GCAGTGGTCGTGGACCTGGGCACTGGCTACTGTAAATGTGGCTTTGCCGGCCTGCCAAGACCCACCCACAAGATCTCAACAACGGTGGGCAAGCCCTACATGGAG
ACCGCCAAGACTGGGGATAATCGCAAGGAGACATTCGTGGGGCAGGAACTCAACAACACAAACGTTCATCTCAAGCTGGTTAACCCTCTGCGACATGGCATCATC
GTGGACTGGGATACAGTGCAGGATATCTGGGAATATCTCTTCCGACAAGAGATGAAGATCGCCCCGGAGGAGCATGCGGTCTTGGTTTCAGACCCGCCACTGAGC
CCACACACCAACAGAGAGAAATATGCTGAAATGCTGTTTGAAGCCTTCAACACCCCTGCAATGCACATCGCCTACCAGTCGCGCCTGTCCATGTACTCCTATGGA
AGGACCTCCGGCCTGGTGGTGGAGGTGGGCCATGGCGTGTCCTACGTGGTCCCCATCTACGAGGGTTATCCTTTGCCCAGCATCACCGGAAGGCTGGACTACGCG
GGCTCTGACCTGACAGCCTACCTGCTGGGCCTGCTGAACAGTGCGGGGAACGAATTCACCCAGGACCAGATGGGCATCGTGGAGGACATCAAGAAGAAATGCTGC
TTTGTGGCCCTGGATCCCATTGAGGAGAAGAAAGTCCCTCTCAGTGAGCATACGATCCGCTACGTGCTGCCGGATGGGAAGGAGATTCAGCTGTGCCAGGAACGG
TTCCTCTGCTCGGAGATGTTCTTCAAGCCATCTCTCATCAAGTCCATGCAGCTGGGCCTCCACACCCAAACCGTGTCCTGCCTTAACAAGTGTGACATCGCCCTC
AAACGGGACCTCATGGGGAACATCCTGCTCTGCGGGGGCAGCACGATGCTCAGTGGCTTCCCTAACCGTCTGCAGAAGGAGCTAAGCAGCATGTGTCCCAATGAC
Show »
>ACTL7A|10881|protein
MWAPPAAIMGDGPTKKVGNQAPLQTQALQTASLRDGPAKRAVWVRHTSSEPQEPTESKAAKERPKQEVTKAVVVDLGTGYCKCGFAGLPRPTHKISTTVGKPYME
TAKTGDNRKETFVGQELNNTNVHLKLVNPLRHGIIVDWDTVQDIWEYLFRQEMKIAPEEHAVLVSDPPLSPHTNREKYAEMLFEAFNTPAMHIAYQSRLSMYSYG
RTSGLVVEVGHGVSYVVPIYEGYPLPSITGRLDYAGSDLTAYLLGLLNSAGNEFTQDQMGIVEDIKKKCCFVALDPIEEKKVPLSEHTIRYVLPDGKEIQLCQER
FLCSEMFFKPSLIKSMQLGLHTQTVSCLNKCDIALKRDLMGNILLCGGSTMLSGFPNRLQKELSSMCPNDTPQVNVLPERDSAVWTGGSILASLQGFQPLWVHRF
EYEEHGPFFLYRRCF
Show »
MWAPPAAIMGDGPTKKVGNQAPLQTQALQTASLRDGPAKRAVWVRHTSSEPQEPTESKAAKERPKQEVTKAVVVDLGTGYCKCGFAGLPRPTHKISTTVGKPYME
TAKTGDNRKETFVGQELNNTNVHLKLVNPLRHGIIVDWDTVQDIWEYLFRQEMKIAPEEHAVLVSDPPLSPHTNREKYAEMLFEAFNTPAMHIAYQSRLSMYSYG
RTSGLVVEVGHGVSYVVPIYEGYPLPSITGRLDYAGSDLTAYLLGLLNSAGNEFTQDQMGIVEDIKKKCCFVALDPIEEKKVPLSEHTIRYVLPDGKEIQLCQER
FLCSEMFFKPSLIKSMQLGLHTQTVSCLNKCDIALKRDLMGNILLCGGSTMLSGFPNRLQKELSSMCPNDTPQVNVLPERDSAVWTGGSILASLQGFQPLWVHRF
EYEEHGPFFLYRRCF
Show »
Evidence summary Top
Click 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 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.