AutismKB 2.0

Evidence Details for INVS


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Basic Information Top
Gene Symbol:INVS ( INV,KIAA0573,MGC133080,MGC133081,NPH2,NPHP2 )
Gene Full Name: inversin
Band: 9q31.1
Quick LinksEntrez ID:27130; OMIM: 243305; Uniprot ID:INVS_HUMAN; ENSEMBL ID: ENSG00000119509; HGNC ID: 17870
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>INVS|27130|nucleotide
ATGAACAAGTCAGAGAACCTGCTGTTTGCTGGTTCATCATTAGCATCACAAGTCCATGCTGCTGCCGTTAATGGAGATAAGGGTGCTCTACAGAGGCTCATCGTA
GGAAACTCTGCTCTTAAAGACAAAGAAGATCAGTTTGGGAGAACACCACTTATGTATTGCGTGTTGGCTGACAGATTGGATTGTGCAGATGCTCTTCTGAAGGCA
GGAGCAGATGTGAATAAAACTGACCATAGCCAGAGAACAGCCCTCCATCTTGCAGCCCAGAAGGGAAATTATCGTTTCATGAAACTCTTACTTACACGCAGAGCA
AACTGGATGCAAAAGGATCTGGAAGAGATGACTCCTTTGCACTTGACCACCCGGCACAGGAGCCCTAAGTGTTTGGCACTTCTGCTGAAGTTTATGGCACCAGGA
GAAGTGGATACACAGGATAAAAACAAGCAAACAGCTCTGCATTGGAGTGCCTACTACAATAACCCTGAGCATGTGAAGCTGCTCATCAAGCATGATTCTAACATT
GGGATTCCTGATGTTGAAGGCAAGATCCCACTTCACTGGGCAGCCAACCATAAAGATCCAAGTGCTGTTCACACAGTGAGATGCATTCTGGATGCTGCTCCAACA
GAGTCTTTACTGAACTGGCAAGACTACGAGGGTCGAACTCCTCTTCACTTTGCAGTTGCTGATGGGAATGTGACCGTGGTTGATGTCTTGACCTCATATGAAAGC
TGCAATATAACGTCTTATGATAACTTATTTCGAACCCCACTGCACTGGGCAGCTTTATTAGGCCATGCACAGATTGTCCATCTCCTTTTAGAAAGAAATAAGTCT
GGAACTATCCCATCTGACAGCCAAGGAGCCACACCTTTGCACTATGCTGCTCAGAGTAACTTTGCTGAAACGGTTAAAGTGTTTTTAAAACATCCTTCAGTGAAA
GATGATTCAGACCTGGAAGGAAGAACATCCTTTATGTGGGCAGCTGGCAAAGGCAGTGATGATGTCCTTAGAACTATGCTGAGCTTAAAATCGGACATAGATATT
AACATGGCTGACAAATATGGAGGTACAGCTTTGCATGCTGCTGCTCTTTCTGGCCATGTCAGCACCGTGAAGTTATTACTGGAAAATAATGCTCAAGTAGATGCT
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>INVS|27130|protein
MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADRLDCADALLKAGADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRA
NWMQKDLEEMTPLHLTTRHRSPKCLALLLKFMAPGEVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDVEGKIPLHWAANHKDPSAVHTVRCILDAAPT
ESLLNWQDYEGRTPLHFAVADGNVTVVDVLTSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKSGTIPSDSQGATPLHYAAQSNFAETVKVFLKHPSVK
DDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDINMADKYGGTALHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD
QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNADPNIQDKEGRTALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERY
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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 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top