AutismKB 2.0

Evidence Details for GEMIN5


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Basic Information Top
Gene Symbol:GEMIN5 ( DKFZp586M1824,MGC142174 )
Gene Full Name: gem (nuclear organelle) associated protein 5
Band: 5q33.2
Quick LinksEntrez ID:25929; OMIM: 607005; Uniprot ID:GEMI5_HUMAN; ENSEMBL ID: ENSG00000082516; HGNC ID: 20043
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GEMIN5|25929|nucleotide
ATGGGGCAGGAGCCGCGGACGCTGCCGCCCTCCCCCAACTGGTACTGCGCCCGCTGCAGCGATGCCGTGCCCGGGGGCCTCTTTGGCTTCGCCGCGCGGACCTCC
GTCTTCCTTGTCCGCGTGGGCCCGGGCGCAGGCGAGAGTCCAGGGACACCCCCGTTTCGAGTCATAGGAGAGTTGGTGGGACACACCGAAAGGGTCTCTGGCTTC
ACATTTTCTCATCACCCTGGTCAGTACAACCTCTGTGCCACCAGCTCCGACGATGGGACTGTGAAAATATGGGATGTAGAGACAAAAACAGTTGTGACAGAACAT
GCACTCCATCAGCATACGATATCAACATTACATTGGTCTCCTCGAGTAAAGGACTTAATAGTATCTGGGGATGAAAAAGGAGTAGTTTTCTGTTACTGGTTTAAC
AGAAATGACAGCCAGCACCTCTTTATAGAACCCAGGACAATTTTCTGTCTTACTTGTTCACCTCATCATGAAGATTTAGTAGCCATTGGCTACAAGGATGGCATA
GTGGTGATAATTGACATCAGTAAGAAAGGAGAAGTTATTCATAGGCTTCGAGGCCATGATGATGAAATCCACTCCATAGCCTGGTGTCCCCTGCCTGGTGAAGAT
TGTTTATCTATAAACCAAGAGGAAACTTCAGAAGAAGCTGAAATTACCAACGGGAATGCTGTAGCACAAGCTCCAGTAACAAAAGGTTGCTACTTAGCCACTGGA
AGCAAAGATCAAACCATTCGAATCTGGAGCTGTTCTAGAGGCCGAGGGGTGATGATTTTGAAATTGCCCTTTCTGAAGAGAAGAGGAGGGGGTATAGACCCAACT
GTTAAAGAGCGCCTTTGGTTGACACTCCATTGGCCCAGCAATCAACCAACACAGCTGGTATCTAGCTGTTTTGGAGGTGAACTGTTGCAATGGGATCTCACTCAA
TCTTGGAGACGGAAATACACCCTCTTCAGTGCCTCATCAGAAGGGCAAAATCATTCAAGAATTGTGTTTAATTTATGTCCTTTACAAACAGAGGATGACAAACAG
CTATTACTTTCTACATCAATGGATAGAGATGTAAAATGTTGGGACATAGCCACCTTGGAGTGCAGCTGGACCCTTCCTTCCCTTGGTGGGTTTGCATACAGCCTG
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>GEMIN5|25929|protein
MGQEPRTLPPSPNWYCARCSDAVPGGLFGFAARTSVFLVRVGPGAGESPGTPPFRVIGELVGHTERVSGFTFSHHPGQYNLCATSSDDGTVKIWDVETKTVVTEH
ALHQHTISTLHWSPRVKDLIVSGDEKGVVFCYWFNRNDSQHLFIEPRTIFCLTCSPHHEDLVAIGYKDGIVVIIDISKKGEVIHRLRGHDDEIHSIAWCPLPGED
CLSINQEETSEEAEITNGNAVAQAPVTKGCYLATGSKDQTIRIWSCSRGRGVMILKLPFLKRRGGGIDPTVKERLWLTLHWPSNQPTQLVSSCFGGELLQWDLTQ
SWRRKYTLFSASSEGQNHSRIVFNLCPLQTEDDKQLLLSTSMDRDVKCWDIATLECSWTLPSLGGFAYSLAFSSVDIGSLAIGVGDGMIRVWNTLSIKNNYDVKN
FWQGVKSKVTALCWHPTKEGCLAFGTDDGKVGLYDTYSNKPPQISSTYHKKTVYTLAWGPPVPPMSLGGEGDRPSLALYSCGGEGIVLQHNPWKLSGEAFDINKL
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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 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top