Evidence Details for TOMM70A
Basic Information Top
Gene Symbol: | TOMM70A ( FLJ90470 ) |
---|---|
Gene Full Name: | translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) |
Band: | 3q12.2 |
Quick Links | Entrez ID:9868; OMIM: 606081; Uniprot ID:TOM70_HUMAN; ENSEMBL ID: ENSG00000154174; HGNC ID: |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>TOMM70A|9868|nucleotide
ATGGCCGCCTCTAAACCTGTGGAGGCAGCGGTGGTCGCAGCCGCTGTACCGAGCTCCGGGAGTGGGGTGGGCGGCGGCGGGACTGCGGGCCCGGGCACGGGGGGG
CTGCCGCGATGGCAGCTGGCTCTGGCGGTCGGGGCACCCCTGCTGCTGGGCGCGGGTGCCATATACCTGTGGAGTCGGCAGCAACGGCGCCGGGAGGCCAGAGGC
CGGGGCGACGCCAGCGGCCTGAAGCGCAACAGCGAACGGAAGACCCCGGAGGGCAGGGCCAGTCCGGCCCCGGGCAGCGGACACCCTGAAGGTCCCGGTGCTCAC
TTGGACATGAACTCTCTTGATAGAGCCCAAGCAGCCAAGAATAAAGGCAATAAATATTTTAAAGCAGGAAAATATGAACAAGCTATTCAGTGCTATACTGAGGCT
ATTAGCTTGTGCCCTACAGAGAAGAATGTTGACCTTTCTACATTTTATCAAAACAGAGCTGCTGCCTTTGAACAGTTGCAAAAATGGAAAGAAGTGGCACAAGAC
TGTACAAAAGCTGTTGAACTTAATCCCAAATATGTGAAAGCTCTCTTTAGACGTGCAAAAGCCCATGAGAAGCTAGACAATAAGAAGGAATGTTTAGAAGATGTC
ACTGCTGTGTGTATATTAGAAGGGTTCCAAAATCAACAAAGCATGCTGTTAGCCGATAAAGTTCTTAAACTCCTTGGAAAAGAGAAAGCCAAAGAAAAATATAAG
AATCGTGAACCTCTGATGCCATCTCCACAGTTTATCAAATCTTACTTCAGTTCTTTCACGGATGATATCATTTCCCAGCCCATGCTTAAAGGAGAGAAATCTGAT
GAAGATAAAGACAAGGAAGGGGAGGCTTTAGAAGTGAAAGAAAATTCTGGATACTTAAAGGCCAAACAGTATATGGAAGAAGAAAACTACGATAAAATCATAAGT
GAATGCTCAAAAGAAATAGATGCTGAAGGCAAATACATGGCAGAAGCATTGCTACTACGAGCTACCTTCTACCTGCTTATTGGCAATGCCAATGCAGCCAAACCA
GATTTAGATAAAGTCATCAGTTTGAAAGAAGCTAATGTGAAGCTTCGAGCAAATGCTCTCATCAAAAGAGGCAGCATGTACATGCAACAGCAGCAGCCTTTGCTG
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ATGGCCGCCTCTAAACCTGTGGAGGCAGCGGTGGTCGCAGCCGCTGTACCGAGCTCCGGGAGTGGGGTGGGCGGCGGCGGGACTGCGGGCCCGGGCACGGGGGGG
CTGCCGCGATGGCAGCTGGCTCTGGCGGTCGGGGCACCCCTGCTGCTGGGCGCGGGTGCCATATACCTGTGGAGTCGGCAGCAACGGCGCCGGGAGGCCAGAGGC
CGGGGCGACGCCAGCGGCCTGAAGCGCAACAGCGAACGGAAGACCCCGGAGGGCAGGGCCAGTCCGGCCCCGGGCAGCGGACACCCTGAAGGTCCCGGTGCTCAC
TTGGACATGAACTCTCTTGATAGAGCCCAAGCAGCCAAGAATAAAGGCAATAAATATTTTAAAGCAGGAAAATATGAACAAGCTATTCAGTGCTATACTGAGGCT
ATTAGCTTGTGCCCTACAGAGAAGAATGTTGACCTTTCTACATTTTATCAAAACAGAGCTGCTGCCTTTGAACAGTTGCAAAAATGGAAAGAAGTGGCACAAGAC
TGTACAAAAGCTGTTGAACTTAATCCCAAATATGTGAAAGCTCTCTTTAGACGTGCAAAAGCCCATGAGAAGCTAGACAATAAGAAGGAATGTTTAGAAGATGTC
ACTGCTGTGTGTATATTAGAAGGGTTCCAAAATCAACAAAGCATGCTGTTAGCCGATAAAGTTCTTAAACTCCTTGGAAAAGAGAAAGCCAAAGAAAAATATAAG
AATCGTGAACCTCTGATGCCATCTCCACAGTTTATCAAATCTTACTTCAGTTCTTTCACGGATGATATCATTTCCCAGCCCATGCTTAAAGGAGAGAAATCTGAT
GAAGATAAAGACAAGGAAGGGGAGGCTTTAGAAGTGAAAGAAAATTCTGGATACTTAAAGGCCAAACAGTATATGGAAGAAGAAAACTACGATAAAATCATAAGT
GAATGCTCAAAAGAAATAGATGCTGAAGGCAAATACATGGCAGAAGCATTGCTACTACGAGCTACCTTCTACCTGCTTATTGGCAATGCCAATGCAGCCAAACCA
GATTTAGATAAAGTCATCAGTTTGAAAGAAGCTAATGTGAAGCTTCGAGCAAATGCTCTCATCAAAAGAGGCAGCATGTACATGCAACAGCAGCAGCCTTTGCTG
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>TOMM70A|9868|protein
MAASKPVEAAVVAAAVPSSGSGVGGGGTAGPGTGGLPRWQLALAVGAPLLLGAGAIYLWSRQQRRREARGRGDASGLKRNSERKTPEGRASPAPGSGHPEGPGAH
LDMNSLDRAQAAKNKGNKYFKAGKYEQAIQCYTEAISLCPTEKNVDLSTFYQNRAAAFEQLQKWKEVAQDCTKAVELNPKYVKALFRRAKAHEKLDNKKECLEDV
TAVCILEGFQNQQSMLLADKVLKLLGKEKAKEKYKNREPLMPSPQFIKSYFSSFTDDIISQPMLKGEKSDEDKDKEGEALEVKENSGYLKAKQYMEEENYDKIIS
ECSKEIDAEGKYMAEALLLRATFYLLIGNANAAKPDLDKVISLKEANVKLRANALIKRGSMYMQQQQPLLSTQDFNMAADIDPQNADVYHHRGQLKILLDQVEEA
VADFDECIRLRPESALAQAQKCFALYRQAYTGNNSSQIQAAMKGFEEVIKKFPRCAEGYALYAQALTDQQQFGKADEMYDKCIDLEPDNATTYVHKGLLQLQWKQ
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MAASKPVEAAVVAAAVPSSGSGVGGGGTAGPGTGGLPRWQLALAVGAPLLLGAGAIYLWSRQQRRREARGRGDASGLKRNSERKTPEGRASPAPGSGHPEGPGAH
LDMNSLDRAQAAKNKGNKYFKAGKYEQAIQCYTEAISLCPTEKNVDLSTFYQNRAAAFEQLQKWKEVAQDCTKAVELNPKYVKALFRRAKAHEKLDNKKECLEDV
TAVCILEGFQNQQSMLLADKVLKLLGKEKAKEKYKNREPLMPSPQFIKSYFSSFTDDIISQPMLKGEKSDEDKDKEGEALEVKENSGYLKAKQYMEEENYDKIIS
ECSKEIDAEGKYMAEALLLRATFYLLIGNANAAKPDLDKVISLKEANVKLRANALIKRGSMYMQQQQPLLSTQDFNMAADIDPQNADVYHHRGQLKILLDQVEEA
VADFDECIRLRPESALAQAQKCFALYRQAYTGNNSSQIQAAMKGFEEVIKKFPRCAEGYALYAQALTDQQQFGKADEMYDKCIDLEPDNATTYVHKGLLQLQWKQ
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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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