AutismKB 2.0

Evidence Details for CHM


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Basic Information Top
Gene Symbol:CHM ( DXS540,FLJ38564,GGTA,HSD-32,MGC102710,REP-1,TCD )
Gene Full Name: choroideremia (Rab escort protein 1)
Band: Xq21.2
Quick LinksEntrez ID:1121; OMIM: 300390; Uniprot ID:RAE1_HUMAN; ENSEMBL ID: ENSG00000188419; HGNC ID: 1940
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHM|1121|nucleotide
ATGGCGGATACTCTCCCTTCGGAGTTTGATGTGATCGTAATAGGGACGGGTTTGCCTGAATCCATCATTGCAGCTGCATGTTCAAGAAGTGGCCGGAGAGTTCTG
CATGTTGATTCAAGAAGCTACTATGGAGGAAACTGGGCCAGTTTTAGCTTTTCAGGACTATTGTCCTGGCTAAAGGAATACCAGGAAAACAGTGACATTGTAAGT
GACAGTCCAGTGTGGCAAGACCAGATCCTTGAAAATGAAGAAGCCATTGCTCTTAGCAGGAAGGACAAAACTATTCAACATGTGGAAGTATTTTGTTATGCCAGT
CAGGATTTGCATGAAGATGTCGAAGAAGCTGGTGCACTGCAGAAAAATCATGCTCTTGTGACATCTGCAAACTCCACAGAAGCTGCAGATTCTGCCTTCCTGCCT
ACGGAGGATGAGTCATTAAGCACTATGAGCTGTGAAATGCTCACAGAACAAACTCCAAGCAGCGATCCAGAGAATGCGCTAGAAGTAAATGGTGCTGAAGTGACA
GGGGAAAAAGAAAACCATTGTGATGATAAAACTTGTGTGCCATCAACTTCAGCAGAAGACATGAGTGAAAATGTGCCTATAGCAGAAGATACCACAGAGCAACCA
AAGAAAAACAGAATTACTTACTCACAAATTATTAAAGAAGGCAGGAGATTTAATATTGATTTAGTATCAAAGCTGCTGTATTCTCGAGGATTACTAATTGATCTT
CTAATCAAATCTAATGTTAGTCGATATGCAGAGTTTAAAAATATTACCAGGATTCTTGCATTTCGAGAAGGACGAGTGGAACAGGTTCCGTGTTCCAGAGCAGAT
GTCTTTAATAGCAAACAACTTACTATGGTAGAAAAGCGAATGCTAATGAAATTTCTTACATTTTGTATGGAATATGAGAAATATCCTGATGAATATAAAGGATAT
GAAGAGATCACATTTTATGAATATTTAAAGACTCAAAAATTAACCCCCAACCTCCAATATATTGTCATGCATTCAATTGCAATGACATCAGAGACAGCCAGCAGC
ACCATAGATGGTCTCAAAGCTACCAAAAACTTTCTTCACTGTCTTGGGCGGTATGGCAACACTCCATTTTTGTTTCCTTTATATGGCCAAGGAGAACTCCCCCAG
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>CHM|1121|protein
MADTLPSEFDVIVIGTGLPESIIAAACSRSGRRVLHVDSRSYYGGNWASFSFSGLLSWLKEYQENSDIVSDSPVWQDQILENEEAIALSRKDKTIQHVEVFCYAS
QDLHEDVEEAGALQKNHALVTSANSTEAADSAFLPTEDESLSTMSCEMLTEQTPSSDPENALEVNGAEVTGEKENHCDDKTCVPSTSAEDMSENVPIAEDTTEQP
KKNRITYSQIIKEGRRFNIDLVSKLLYSRGLLIDLLIKSNVSRYAEFKNITRILAFREGRVEQVPCSRADVFNSKQLTMVEKRMLMKFLTFCMEYEKYPDEYKGY
EEITFYEYLKTQKLTPNLQYIVMHSIAMTSETASSTIDGLKATKNFLHCLGRYGNTPFLFPLYGQGELPQCFCRMCAVFGGIYCLRHSVQCLVVDKESRKCKAII
DQFGQRIISEHFLVEDSYFPENMCSRVQYRQISRAVLITDRSVLKTDSDQQISILTVPAEEPGTFAVRVIELCSSTMTCMKGTYLVHLTCTSSKTAREDLESVVQ
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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