Evidence Details for SEMA5A
Basic Information Top
| Gene Symbol: | SEMA5A ( FLJ12815,SEMAF,semF ) |
|---|---|
| Gene Full Name: | sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A |
| Band: | 5p15.31 |
| Quick Links | Entrez ID:9037; OMIM: 609297; Uniprot ID:SEM5A_HUMAN; ENSEMBL ID: ENSG00000112902; HGNC ID: 10736 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SEMA5A|9037|nucleotide
ATGAAGGGAACCTGTGTTATAGCATGGCTGTTCTCAAGCCTGGGGCTGTGGAGACTCGCCCACCCAGAGGCCCAGGGTACGACTCAGTGCCAGAGAACCGAGCAT
CCAGTCATCTCCTATAAAGAAATTGGCCCCTGGTTACGGGAGTTCAGAGCGAAGAATGCTGTGGATTTCTCGCAGTTAACATTTGACCCAGGACAGAAAGAACTT
GTTGTAGGAGCAAGAAACTACCTCTTCAGGTTACAGCTTGAGGATCTGTCTCTTATCCAGGCTGTGGAATGGGAGTGTGATGAAGCTACCAAAAAGGCCTGTTAC
AGCAAAGGCAAATCAAAGGAGGAATGTCAGAACTACATCCGGGTGCTTCTGGTGGGTGGCGACCGGTTATTCACCTGTGGGACCAATGCATTCACGCCTGTCTGC
ACCAACCGCTCGTTGAGCAACCTGACTGAGATCCATGATCAGATCAGTGGCATGGCCCGCTGTCCCTACAGTCCCCAGCACAATTCCACAGCGCTCCTCACAGCT
GGTGGGGAGCTCTATGCTGCTACAGCCATGGATTTTCCAGGACGTGATCCTGCCATTTACCGAAGCCTAGGCATTTTACCTCCTCTCCGCACGGCGCAGTACAAC
TCCAAATGGCTCAATGAGCCAAACTTTGTGTCATCTTATGACATCGGAAATTTTACCTACTTCTTTTTCCGAGAAAATGCAGTAGAGCATGACTGTGGGAAAACA
GTGTTCTCCAGAGCTGCCCGGGTGTGCAAGAACGATATTGGTGGGCGCTTCCTGCTGGAAGACACCTGGACCACATTCATGAAGGCTCGCCTGAACTGCTCCCGT
CCTGGGGAAGTCCCCTTTTACTACAACGAATTGCAGAGTACTTTCTTCCTGCCTGAGCTGGATTTGATCTATGGCATCTTTACCACCAATGTGAACAGCATTGCG
GCCTCAGCTGTGTGCGTCTTCAACCTGAGCGCCATCGCGCAGGCCTTCTCTGGGCCCTTCAAGTACCAAGAAAACTCGCGCTCGGCCTGGCTACCGTATCCCAAC
CCAAACCCCCACTTCCAGTGTGGCACCGTGGACCAGGGCCTGTACGTGAACCTGACCGAGAGAAATCTGCAGGATGCTCAGAAGTTCATTCTGATGCATGAGGTG
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ATGAAGGGAACCTGTGTTATAGCATGGCTGTTCTCAAGCCTGGGGCTGTGGAGACTCGCCCACCCAGAGGCCCAGGGTACGACTCAGTGCCAGAGAACCGAGCAT
CCAGTCATCTCCTATAAAGAAATTGGCCCCTGGTTACGGGAGTTCAGAGCGAAGAATGCTGTGGATTTCTCGCAGTTAACATTTGACCCAGGACAGAAAGAACTT
GTTGTAGGAGCAAGAAACTACCTCTTCAGGTTACAGCTTGAGGATCTGTCTCTTATCCAGGCTGTGGAATGGGAGTGTGATGAAGCTACCAAAAAGGCCTGTTAC
AGCAAAGGCAAATCAAAGGAGGAATGTCAGAACTACATCCGGGTGCTTCTGGTGGGTGGCGACCGGTTATTCACCTGTGGGACCAATGCATTCACGCCTGTCTGC
ACCAACCGCTCGTTGAGCAACCTGACTGAGATCCATGATCAGATCAGTGGCATGGCCCGCTGTCCCTACAGTCCCCAGCACAATTCCACAGCGCTCCTCACAGCT
GGTGGGGAGCTCTATGCTGCTACAGCCATGGATTTTCCAGGACGTGATCCTGCCATTTACCGAAGCCTAGGCATTTTACCTCCTCTCCGCACGGCGCAGTACAAC
TCCAAATGGCTCAATGAGCCAAACTTTGTGTCATCTTATGACATCGGAAATTTTACCTACTTCTTTTTCCGAGAAAATGCAGTAGAGCATGACTGTGGGAAAACA
GTGTTCTCCAGAGCTGCCCGGGTGTGCAAGAACGATATTGGTGGGCGCTTCCTGCTGGAAGACACCTGGACCACATTCATGAAGGCTCGCCTGAACTGCTCCCGT
CCTGGGGAAGTCCCCTTTTACTACAACGAATTGCAGAGTACTTTCTTCCTGCCTGAGCTGGATTTGATCTATGGCATCTTTACCACCAATGTGAACAGCATTGCG
GCCTCAGCTGTGTGCGTCTTCAACCTGAGCGCCATCGCGCAGGCCTTCTCTGGGCCCTTCAAGTACCAAGAAAACTCGCGCTCGGCCTGGCTACCGTATCCCAAC
CCAAACCCCCACTTCCAGTGTGGCACCGTGGACCAGGGCCTGTACGTGAACCTGACCGAGAGAAATCTGCAGGATGCTCAGAAGTTCATTCTGATGCATGAGGTG
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>SEMA5A|9037|protein
MKGTCVIAWLFSSLGLWRLAHPEAQGTTQCQRTEHPVISYKEIGPWLREFRAKNAVDFSQLTFDPGQKELVVGARNYLFRLQLEDLSLIQAVEWECDEATKKACY
SKGKSKEECQNYIRVLLVGGDRLFTCGTNAFTPVCTNRSLSNLTEIHDQISGMARCPYSPQHNSTALLTAGGELYAATAMDFPGRDPAIYRSLGILPPLRTAQYN
SKWLNEPNFVSSYDIGNFTYFFFRENAVEHDCGKTVFSRAARVCKNDIGGRFLLEDTWTTFMKARLNCSRPGEVPFYYNELQSTFFLPELDLIYGIFTTNVNSIA
ASAVCVFNLSAIAQAFSGPFKYQENSRSAWLPYPNPNPHFQCGTVDQGLYVNLTERNLQDAQKFILMHEVVQPVTTVPSFMEDNSRFSHVAVDVVQGREALVHII
YLATDYGTIKKVRVPLNQTSSSCLLEEIELFPERRREPIRSLQILHSQSVLFVGLREHVVKIPLKRCQFYRTRSTCIGAQDPYCGWDVVMKKCTSLEESLSMTQW
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MKGTCVIAWLFSSLGLWRLAHPEAQGTTQCQRTEHPVISYKEIGPWLREFRAKNAVDFSQLTFDPGQKELVVGARNYLFRLQLEDLSLIQAVEWECDEATKKACY
SKGKSKEECQNYIRVLLVGGDRLFTCGTNAFTPVCTNRSLSNLTEIHDQISGMARCPYSPQHNSTALLTAGGELYAATAMDFPGRDPAIYRSLGILPPLRTAQYN
SKWLNEPNFVSSYDIGNFTYFFFRENAVEHDCGKTVFSRAARVCKNDIGGRFLLEDTWTTFMKARLNCSRPGEVPFYYNELQSTFFLPELDLIYGIFTTNVNSIA
ASAVCVFNLSAIAQAFSGPFKYQENSRSAWLPYPNPNPHFQCGTVDQGLYVNLTERNLQDAQKFILMHEVVQPVTTVPSFMEDNSRFSHVAVDVVQGREALVHII
YLATDYGTIKKVRVPLNQTSSSCLLEEIELFPERRREPIRSLQILHSQSVLFVGLREHVVKIPLKRCQFYRTRSTCIGAQDPYCGWDVVMKKCTSLEESLSMTQW
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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 | 1 (3) | 0 (3) | 0 (0) | 0 (0) | 1 (1) | 1 (2) | 0 (0) | 1 (1) | 1 (1) | 33 (11) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Weiss, 2009_2 | Replication | Affymetrix 5.0/500K arrays, Taqman assays | 2073 | - (-) |  | | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | |  | ASD | - - |
- - | ||
| MIXED/OTHERS | |||||||||||
| Weiss, 2009_1 | Discovery | Affymetrix 5.0 and 500K arrays | 1038 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Marshall, 2008 | - | SNP microarray | | | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Melin, 2006_1 | Sweden | lymphoblastoid cell lines | 6 (50.00%) | | | - | autism | 6 (50.00%) |
0 | Down | 0.095 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
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 TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Brett M, 2014 | - | Illumina HiSeq2000 | - | - | autism | - | - | - | 8 | Sanger sequencing |
Low Scale Gene Studies TopContact 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.