AutismKB 2.0

Evidence Details for CHML


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Basic Information Top
Gene Symbol:CHML ( FLJ10071,FLJ13361,REP2 )
Gene Full Name: choroideremia-like (Rab escort protein 2)
Band: 1q43
Quick LinksEntrez ID:1122; OMIM: 118825; Uniprot ID:RAE2_HUMAN; ENSEMBL ID: ENSG00000203668; HGNC ID: 1941
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CHML|1122|nucleotide
ATGGCGGACAATCTTCCCACAGAGTTTGATGTGGTTATAATAGGGACAGGTTTGCCCGAATCCATCCTTGCAGCTGCATGTTCAAGAAGTGGTCAGAGGGTTCTG
CATATTGATTCAAGAAGCTACTATGGAGGAAACTGGGCTAGTTTCAGCTTTTCAGGATTGCTATCCTGGTTGAAGGAGTATCAGCAAAACAATGACATTGGGGAA
GAAAGTACTGTTGTATGGCAGGACCTGATCCATGAAACAGAAGAAGCCATCACTCTTCGCAAGAAGGATGAAACTATTCAACACACAGAAGCTTTTTGCTACGCC
AGTCAGGATATGGAGGACAACGTTGAAGAGATTGGTGCTCTGCAGAAAAATCCTTCTTTGGGGGTGTCTAATACCTTCACTGAAGTTCTGGATTCTGCATTACCT
GAAGAAAGCCAGTTATCGTATTTTAATAGCGACGAAATGCCTGCAAAACACACTCAGAAAAGTGATACAGAGATTTCACTAGAAGTAACTGATGTAGAGGAATCA
GTGGAGAAGGAAAAGTATTGTGGAGATAAAACTTGTATGCACACAGTTTCAGATAAAGATGGAGATAAAGATGAAAGCAAATCTACAGTAGAAGATAAGGCCGAT
GAACCAATTAGAAATAGGATTACTTACTCTCAAATAGTTAAAGAAGGCAGGAGGTTTAATATTGATTTGGTGTCAAAACTGCTGTATTCTCAAGGATTGCTAATT
GATCTTTTAATCAAATCAGATGTTAGTCGTTATGTAGAATTTAAAAATGTCACTAGGATTCTTGCATTTCGGGAAGGAAAGGTAGAACAAGTTCCTTGTTCCAGA
GCAGATGTCTTTAATAGCAAGGAACTCACCATGGTTGAAAAGAGGATGCTAATGAAATTTCTCACATTTTGTTTAGAGTATGAACAACATCCTGATGAATACCAA
GCTTTCAGGCAGTGTTCATTTTCAGAATACTTAAAAACTAAAAAACTAACTCCCAACCTTCAACATTTTGTACTGCACTCAATTGCAATGACATCAGAATCATCT
TGCACTACAATAGATGGTCTTAACGCAACTAAAAACTTCCTTCAGTGTCTCGGACGGTTTGGCAACACCCCCTTTTTATTTCCCTTGTATGGCCAAGGAGAAATT
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>CHML|1122|protein
MADNLPTEFDVVIIGTGLPESILAAACSRSGQRVLHIDSRSYYGGNWASFSFSGLLSWLKEYQQNNDIGEESTVVWQDLIHETEEAITLRKKDETIQHTEAFCYA
SQDMEDNVEEIGALQKNPSLGVSNTFTEVLDSALPEESQLSYFNSDEMPAKHTQKSDTEISLEVTDVEESVEKEKYCGDKTCMHTVSDKDGDKDESKSTVEDKAD
EPIRNRITYSQIVKEGRRFNIDLVSKLLYSQGLLIDLLIKSDVSRYVEFKNVTRILAFREGKVEQVPCSRADVFNSKELTMVEKRMLMKFLTFCLEYEQHPDEYQ
AFRQCSFSEYLKTKKLTPNLQHFVLHSIAMTSESSCTTIDGLNATKNFLQCLGRFGNTPFLFPLYGQGEIPQGFCRMCAVFGGIYCLRHKVQCFVVDKESGRCKA
IIDHFGQRINAKYFIVEDSYLSEETCSNVQYKQISRAVLITDQSILKTDLDQQTSILIVPPAEPGACAVRVTELCSSTMTCMKDTYLVHLTCSSSKTAREDLESV
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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top