AutismKB 2.0

Evidence Details for SPIRE1


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Basic Information Top
Gene Symbol:SPIRE1 ( MGC150621,MGC150622,Spir-1 )
Gene Full Name: spire homolog 1 (Drosophila)
Band: 18p11.21
Quick LinksEntrez ID:56907; OMIM: 609216; Uniprot ID:SPIR1_HUMAN; ENSEMBL ID: ENSG00000134278; HGNC ID: 30622
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPIRE1|56907|nucleotide
ATGGCTCAGGCGGCTGGCCCGGCGGGCGGCGGGGAGCCGCGGACTGAGGCAGTGGGCGGCGAGGGGCCGCGGGAGCCCGGGGCAGCCGGCGGCGCGGCCGGGGGC
TCCCGGGACGCGCTGAGCCTGGAGGAGATCCTGCGGCTGTACAACCAGCCCATCAACGAGGAGCAGGCGTGGGCCGTGTGCTACCAGTGCTGCGGTTCCCTGCGC
GCCGCCGCCCGCCGCCGCCAGCCCCGCCACCGTGTGCGCTCGGCCGCGCAGATCCGCGTCTGGAGGGACGGCGCCGTCACCCTGGCGCCCGCGGCCGACGACGCG
GGAGAGCCGCCCCCAGTTGCGGGTAAATTGGGATATTCACAATGTATGGAAACAGAGGTCATTGAATCTTTGGGAATTATTATTTATAAAGCACTGGACTATGGT
TTGAAGGAGAATGAAGAAAGGGAATTAAGCCCTCCCCTAGAGCAGCTTATCGATCACATGGCCAACACGGTGGAAGCTGACGGTAGCAATGATGAGGGCTATGAG
GCTGCAGAAGAAGGCCTGGGAGATGAAGATGAAAAGAGAAAAATCTCAGCTATTCGGTCATATAGAGATGTCATGAAGTTGTGTGCTGCTCATCTCCCTACTGAA
TCAGATGCACCAAATCATTATCAGGCAGTATGTCGTGCACTGTTTGCAGAAACAATGGAGCTCCATACATTTCTGACCAAAATTAAGAGTGCGAAAGAGAATCTT
AAGAAGATTCAAGAAATGGAAAAGAGCGATGAATCTAGCACAGACTTGGAAGAGCTGAAAAACGCTGACTGGGCACGATTCTGGGTACAGGTGATGAGGGATTTG
AGGAATGGGGTAAAACTTAAGAAGGTCCAAGAGCGGCAGTACAACCCTTTGCCCATTGAATATCAGCTCACCCCTTATGAGATGTTAATGGATGACATTCGCTGC
AAAAGATACACCTTGCGAAAAGTGATGGTGAATGGTGATATTCCCCCTCGGTTAAAAAAGAGTGCTCATGAAATCATCCTCGACTTCATCAGATCCAGACCTCCT
TTAAATCCAGTCTCAGCCAGAAAACTGAAACCAACTCCACCACGGCCACGGAGCCTCCATGAAAGAATATTAGAAGAAATTAAAGCAGAAAGAAAGCTGCGGCCT
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>SPIRE1|56907|protein
MAQAAGPAGGGEPRTEAVGGEGPREPGAAGGAAGGSRDALSLEEILRLYNQPINEEQAWAVCYQCCGSLRAAARRRQPRHRVRSAAQIRVWRDGAVTLAPAADDA
GEPPPVAGKLGYSQCMETEVIESLGIIIYKALDYGLKENEERELSPPLEQLIDHMANTVEADGSNDEGYEAAEEGLGDEDEKRKISAIRSYRDVMKLCAAHLPTE
SDAPNHYQAVCRALFAETMELHTFLTKIKSAKENLKKIQEMEKSDESSTDLEELKNADWARFWVQVMRDLRNGVKLKKVQERQYNPLPIEYQLTPYEMLMDDIRC
KRYTLRKVMVNGDIPPRLKKSAHEIILDFIRSRPPLNPVSARKLKPTPPRPRSLHERILEEIKAERKLRPVSPEEIRRSRLAMRPLSMSYSFDLSDVTTPESTKN
LVESSMVNGGLTSQTKENGLSTSQQVPAQRKKLLRAPTLAELDSSESEEETLHKSTSSSSVSPSFPEEPVLEAVSTRKKPPKFLPISSTPQPERRQPPQRRHSIE
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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) 1 (1) 0 (1) 1 (1) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top