Evidence Details for AFAP1L2
Basic Information Top
Gene Symbol: | AFAP1L2 ( FLJ14564,KIAA1914,XB130 ) |
---|---|
Gene Full Name: | actin filament associated protein 1-like 2 |
Band: | 10q25.3 |
Quick Links | Entrez ID:84632; OMIM: 612420; Uniprot ID:AF1L2_HUMAN; ENSEMBL ID: ENSG00000169129; HGNC ID: 25901 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>AFAP1L2|84632|nucleotide
ATGGAGCGGTACAAAGCCCTGGAACAGCTGCTGACAGAGTTGGATGACTTCCTCAAGATTCTTGACCAGGAGAACCTGAGCAGCACAGCACTGGTGAAGAAGAGC
TGCCTGGCGGAGCTCCTCCGGCTTTACACCAAAAGCAGCAGCTCTGATGAGGAGTACATTTATATGAACAAAGTGACCATCAACAAGCAACAGAATGCAGAGTCT
CAAGGCAAAGCGCCTGAGGAGCAGGGCCTGCTACCCAATGGGGAGCCCAGCCAGCACTCCTCGGCCCCTCAGAAGAGCCTTCCAGACCTCCCGCCACCCAAGATG
ATTCCAGAACGGAAACAGCTTGCCATCCCAAAGACGGAGTCTCCAGAGGGCTACTATGAAGAGGCTGAGCCATATGACACATCCCTCAATGAGGACGGAGAGGCT
GTGAGCAGCTCCTACGAGTCCTACGATGAAGAGGACGGCAGCAAGGGCAAGTCGGCCCCTTACCAGTGGCCCTCGCCGGAGGCCGGCATCGAGCTGATGCGTGAC
GCCCGCATCTGCGCCTTCCTGTGGCGCAAGAAGTGGCTGGGACAGTGGGCCAAGCAGCTCTGTGTCATCAAGGACAACAGGCTTCTGTGCTACAAATCCTCCAAG
GACCACAGCCCTCAGCTGGACGTGAACCTACTGGGCAGCAGCGTCATTCACAAGGAGAAGCAAGTGCGGAAGAAGGAGCACAAGCTGAAGATCACACCGATGAAT
GCCGATGTGATTGTGCTGGGCCTGCAGAGCAAGGACCAGGCTGAGCAGTGGCTCAGGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGA
AACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAACCAGATATAGCTGAGAAGTACCTGTCGGCTTCAGAGTATGGGAGCTCCGTGGATGGCCACCCT
GAGGTCCCAGAAACCAAAGACGTCAAGAAGAAATGTTCTGCTGGCCTCAAACTGAGCAACCTAATGAATCTGGGCAGGAAGAAATCCACCTCACTGGAGCCTGTG
GAGAGGTCCCTCGAGACATCCAGTTACCTGAACGTGCTGGTGAACAGCCAGTGGAAGTCTCGCTGGTGCTCTGTCAGGGACAATCACCTGCACTTCTACCAGGAC
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ATGGAGCGGTACAAAGCCCTGGAACAGCTGCTGACAGAGTTGGATGACTTCCTCAAGATTCTTGACCAGGAGAACCTGAGCAGCACAGCACTGGTGAAGAAGAGC
TGCCTGGCGGAGCTCCTCCGGCTTTACACCAAAAGCAGCAGCTCTGATGAGGAGTACATTTATATGAACAAAGTGACCATCAACAAGCAACAGAATGCAGAGTCT
CAAGGCAAAGCGCCTGAGGAGCAGGGCCTGCTACCCAATGGGGAGCCCAGCCAGCACTCCTCGGCCCCTCAGAAGAGCCTTCCAGACCTCCCGCCACCCAAGATG
ATTCCAGAACGGAAACAGCTTGCCATCCCAAAGACGGAGTCTCCAGAGGGCTACTATGAAGAGGCTGAGCCATATGACACATCCCTCAATGAGGACGGAGAGGCT
GTGAGCAGCTCCTACGAGTCCTACGATGAAGAGGACGGCAGCAAGGGCAAGTCGGCCCCTTACCAGTGGCCCTCGCCGGAGGCCGGCATCGAGCTGATGCGTGAC
GCCCGCATCTGCGCCTTCCTGTGGCGCAAGAAGTGGCTGGGACAGTGGGCCAAGCAGCTCTGTGTCATCAAGGACAACAGGCTTCTGTGCTACAAATCCTCCAAG
GACCACAGCCCTCAGCTGGACGTGAACCTACTGGGCAGCAGCGTCATTCACAAGGAGAAGCAAGTGCGGAAGAAGGAGCACAAGCTGAAGATCACACCGATGAAT
GCCGATGTGATTGTGCTGGGCCTGCAGAGCAAGGACCAGGCTGAGCAGTGGCTCAGGGTCATCCAGGAAGTGAGCGGCCTGCCTTCCGAAGGAGCATCTGAAGGA
AACCAGTACACCCCGGATGCCCAGCGCTTTAACTGCCAGAAACCAGATATAGCTGAGAAGTACCTGTCGGCTTCAGAGTATGGGAGCTCCGTGGATGGCCACCCT
GAGGTCCCAGAAACCAAAGACGTCAAGAAGAAATGTTCTGCTGGCCTCAAACTGAGCAACCTAATGAATCTGGGCAGGAAGAAATCCACCTCACTGGAGCCTGTG
GAGAGGTCCCTCGAGACATCCAGTTACCTGAACGTGCTGGTGAACAGCCAGTGGAAGTCTCGCTGGTGCTCTGTCAGGGACAATCACCTGCACTTCTACCAGGAC
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>AFAP1L2|84632|protein
MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYTKSSSSDEEYIYMNKVTINKQQNAESQGKAPEEQGLLPNGEPSQHSSAPQKSLPDLPPPKM
IPERKQLAIPKTESPEGYYEEAEPYDTSLNEDGEAVSSSYESYDEEDGSKGKSAPYQWPSPEAGIELMRDARICAFLWRKKWLGQWAKQLCVIKDNRLLCYKSSK
DHSPQLDVNLLGSSVIHKEKQVRKKEHKLKITPMNADVIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGNQYTPDAQRFNCQKPDIAEKYLSASEYGSSVDGHP
EVPETKDVKKKCSAGLKLSNLMNLGRKKSTSLEPVERSLETSSYLNVLVNSQWKSRWCSVRDNHLHFYQDRNRSKVAQQPLSLVGCEVVPDPSPDHLYSFRILHK
GEELAKLEAKSSEEMGHWLGLLLSESGSKTDPEEFTYDYVDADRVSCIVSAAKNSLLLMQRKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEPTEEATPVA
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MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYTKSSSSDEEYIYMNKVTINKQQNAESQGKAPEEQGLLPNGEPSQHSSAPQKSLPDLPPPKM
IPERKQLAIPKTESPEGYYEEAEPYDTSLNEDGEAVSSSYESYDEEDGSKGKSAPYQWPSPEAGIELMRDARICAFLWRKKWLGQWAKQLCVIKDNRLLCYKSSK
DHSPQLDVNLLGSSVIHKEKQVRKKEHKLKITPMNADVIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGNQYTPDAQRFNCQKPDIAEKYLSASEYGSSVDGHP
EVPETKDVKKKCSAGLKLSNLMNLGRKKSTSLEPVERSLETSSYLNVLVNSQWKSRWCSVRDNHLHFYQDRNRSKVAQQPLSLVGCEVVPDPSPDHLYSFRILHK
GEELAKLEAKSSEEMGHWLGLLLSESGSKTDPEEFTYDYVDADRVSCIVSAAKNSLLLMQRKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEPTEEATPVA
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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) | 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
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