Evidence Details for SMAP2
Basic Information Top
Gene Symbol: | SMAP2 ( RP1-228H13.3,SMAP1L ) |
---|---|
Gene Full Name: | small ArfGAP2 |
Band: | 1p34.2 |
Quick Links | Entrez ID:64744; OMIM: NA; Uniprot ID:SMAP2_HUMAN; ENSEMBL ID: ENSG00000084070; HGNC ID: 25082 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>SMAP2|64744|nucleotide
ATGATTTTTAAAGGGCCGCGATGGGCCTCTTGGAACATTGGTGTGTTCATCTGCATTCGATGTGCTGGAATCCACAGGAATCTGGGGGTGCACATATCCAGGGTA
AAGTCAGTTAACCTCGACCAGTGGACTCAAGAACAGATTCAGTGCATGCAAGAGATGGGAAATGGAAAGGCAAACCGACTTTATGAAGCCTATCTTCCTGAGACC
TTTCGGCGACCTCAGATAGACCCAGCTGTTGAAGGATTTATTCGAGACAAATATGAGAAGAAGAAATACATGGACCGAAGTCTGGACATCAATGCCTTTAGGAAA
GAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGCCACAGAAAAAAGAAGACCCA
CAGCTACCTCGGAAAAGCTCCCCGAAATCCACAGCGCCTGTCATGGATTTGTTGGGCCTTGATGCTCCTGTGGCCTGCTCCATTGCAAATAGTAAGACCAGCAAT
ACCCTAGAGAAGGATTTAGATCTGTTGGCCTCTGTTCCATCCCCTTCTTCTTCCGGTTCCAGAAAGGTTGTAGGTTCCATGCCAACTGCAGGGAGTGCCGGCTCT
GTTCCTGAAAATCTGAACCTGTTTCCGGAGCCAGGGAGCAAATCAGAAGAAATAGGCAAGAAACAGCTCTCTAAAGACTCCATTCTTTCACTGTATGGATCCCAG
ACGCCTCAAATGCCTACTCAAGCAATGTTCATGGCTCCCGCTCAGATGGCATATCCCACAGCCTACCCCAGCTTCCCCGGGGTTACACCTCCTAACAGCATAATG
GGGAGCATGATGCCTCCACCAGTAGGCATGGTTGCTCAGCCAGGAGCTTCTGGGATGGTTGCCCCCATGGCCATGCCTGCAGGCTATATGGGTGGCATGCAGGCA
TCAATGATGGGTGTGCCGAATGGAATGATGACCACCCAGCAGGCTGGCTACATGGCAGGCATGGCAGCTATGCCCCAGACTGTGTATGGGGTCCAGCCAGCTCAG
CAGCTGCAATGGAACCTTACTCAGATGACCCAGCAGATGGCTGGGATGAACTTCTATGGAGCCAATGGCATGATGAACTATGGACAGTCAATGAGTGGCGGAAAT
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ATGATTTTTAAAGGGCCGCGATGGGCCTCTTGGAACATTGGTGTGTTCATCTGCATTCGATGTGCTGGAATCCACAGGAATCTGGGGGTGCACATATCCAGGGTA
AAGTCAGTTAACCTCGACCAGTGGACTCAAGAACAGATTCAGTGCATGCAAGAGATGGGAAATGGAAAGGCAAACCGACTTTATGAAGCCTATCTTCCTGAGACC
TTTCGGCGACCTCAGATAGACCCAGCTGTTGAAGGATTTATTCGAGACAAATATGAGAAGAAGAAATACATGGACCGAAGTCTGGACATCAATGCCTTTAGGAAA
GAAAAAGATGACAAGTGGAAAAGAGGGAGCGAACCAGTTCCAGAAAAAAAATTGGAACCTGTTGTTTTTGAGAAGGTGAAAATGCCACAGAAAAAAGAAGACCCA
CAGCTACCTCGGAAAAGCTCCCCGAAATCCACAGCGCCTGTCATGGATTTGTTGGGCCTTGATGCTCCTGTGGCCTGCTCCATTGCAAATAGTAAGACCAGCAAT
ACCCTAGAGAAGGATTTAGATCTGTTGGCCTCTGTTCCATCCCCTTCTTCTTCCGGTTCCAGAAAGGTTGTAGGTTCCATGCCAACTGCAGGGAGTGCCGGCTCT
GTTCCTGAAAATCTGAACCTGTTTCCGGAGCCAGGGAGCAAATCAGAAGAAATAGGCAAGAAACAGCTCTCTAAAGACTCCATTCTTTCACTGTATGGATCCCAG
ACGCCTCAAATGCCTACTCAAGCAATGTTCATGGCTCCCGCTCAGATGGCATATCCCACAGCCTACCCCAGCTTCCCCGGGGTTACACCTCCTAACAGCATAATG
GGGAGCATGATGCCTCCACCAGTAGGCATGGTTGCTCAGCCAGGAGCTTCTGGGATGGTTGCCCCCATGGCCATGCCTGCAGGCTATATGGGTGGCATGCAGGCA
TCAATGATGGGTGTGCCGAATGGAATGATGACCACCCAGCAGGCTGGCTACATGGCAGGCATGGCAGCTATGCCCCAGACTGTGTATGGGGTCCAGCCAGCTCAG
CAGCTGCAATGGAACCTTACTCAGATGACCCAGCAGATGGCTGGGATGAACTTCTATGGAGCCAATGGCATGATGAACTATGGACAGTCAATGAGTGGCGGAAAT
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>SMAP2|64744|protein
MIFKGPRWASWNIGVFICIRCAGIHRNLGVHISRVKSVNLDQWTQEQIQCMQEMGNGKANRLYEAYLPETFRRPQIDPAVEGFIRDKYEKKKYMDRSLDINAFRK
EKDDKWKRGSEPVPEKKLEPVVFEKVKMPQKKEDPQLPRKSSPKSTAPVMDLLGLDAPVACSIANSKTSNTLEKDLDLLASVPSPSSSGSRKVVGSMPTAGSAGS
VPENLNLFPEPGSKSEEIGKKQLSKDSILSLYGSQTPQMPTQAMFMAPAQMAYPTAYPSFPGVTPPNSIMGSMMPPPVGMVAQPGASGMVAPMAMPAGYMGGMQA
SMMGVPNGMMTTQQAGYMAGMAAMPQTVYGVQPAQQLQWNLTQMTQQMAGMNFYGANGMMNYGQSMSGGNGQAANQTLSPQMWK
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MIFKGPRWASWNIGVFICIRCAGIHRNLGVHISRVKSVNLDQWTQEQIQCMQEMGNGKANRLYEAYLPETFRRPQIDPAVEGFIRDKYEKKKYMDRSLDINAFRK
EKDDKWKRGSEPVPEKKLEPVVFEKVKMPQKKEDPQLPRKSSPKSTAPVMDLLGLDAPVACSIANSKTSNTLEKDLDLLASVPSPSSSGSRKVVGSMPTAGSAGS
VPENLNLFPEPGSKSEEIGKKQLSKDSILSLYGSQTPQMPTQAMFMAPAQMAYPTAYPSFPGVTPPNSIMGSMMPPPVGMVAQPGASGMVAPMAMPAGYMGGMQA
SMMGVPNGMMTTQQAGYMAGMAAMPQTVYGVQPAQQLQWNLTQMTQQMAGMNFYGANGMMNYGQSMSGGNGQAANQTLSPQMWK
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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
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