AutismKB 2.0

Evidence Details for UQCRC1


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Basic Information Top
Gene Symbol:UQCRC1 ( D3S3191,QCR1,UQCR1 )
Gene Full Name: ubiquinol-cytochrome c reductase core protein I
Band: 3p21.31
Quick LinksEntrez ID:7384; OMIM: 191328; Uniprot ID:QCR1_HUMAN; ENSEMBL ID: ENSG00000010256; HGNC ID: 12585
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>UQCRC1|7384|nucleotide
ATGGCGGCGTCCGTGGTCTGTCGGGCCGCTACCGCCGGGGCACAAGTGCTATTGCGCGCCCGCCGCTCGCCGGCCCTGCTGCGGACGCCAGCCTTGCGGAGTACG
GCAACCTTCGCTCAGGCGCTCCAGTTCGTGCCGGAGACGCAGGTTAGCCTGCTGGACAACGGCCTGCGTGTGGCCTCCGAGCAGTCCTCTCAGCCCACTTGCACG
GTGGGAGTGTGGATTGATGTTGGCAGCCGTTTTGAGACTGAGAAGAATAATGGGGCAGGCTACTTTTTGGAGCATCTGGCTTTCAAGGGAACAAAGAATCGGCCT
GGCAGTGCCCTGGAGAAGGAGGTGGAGAGCATGGGGGCCCATCTTAATGCCTACAGCACCCGGGAGCACACAGCTTACTACATCAAGGCGCTGTCCAAGGATCTG
CCGAAAGCTGTGGAGCTCCTGGGTGACATTGTGCAGAACTGTAGTCTGGAAGACTCACAGATTGAGAAGGAACGTGATGTGATCCTGCGGGAGATGCAGGAGAAT
GATGCATCTATGCGAGATGTGGTCTTTAACTACCTGCATGCCACAGCATTCCAGGGCACACCTCTAGCCCAGGCTGTGGAGGGGCCCAGTGAGAATGTCAGGAAG
CTGTCTCGTGCAGACTTGACCGAGTACCTCAGCACACATTACAAGGCCCCTCGAATGGTGCTGGCAGCAGCTGGAGGAGTGGAGCACCAGCAACTGTTAGACCTC
GCCCAGAAGCACCTCGGTGGCATCCCATGGACATATGCAGAGGACGCTGTGCCCACTCTTACTCCATGCCGCTTCACTGGCAGTGAGATCCGCCACCGTGATGAT
GCTCTACCTTTTGCCCACGTGGCCATTGCAGTAGAGGGTCCTGGCTGGGCCAGCCCGGACAATGTGGCCTTGCAAGTGGCCAATGCCATCATCGGCCACTATGAC
TGCACTTATGGTGGTGGCGTGCACCTGTCCAGCCCACTGGCTTCAGGTGCTGTGGCCAACAAGCTATGCCAGAGTTTCCAGACCTTCAGCATCTGCTATGCAGAG
ACGGGCTTGCTGGGTGCACACTTTGTCTGTGACCGAATGAAAATCGATGACATGATGTTCGTCCTGCAAGGGCAGTGGATGCGCCTGTGTACCAGTGCCACGGAG
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>UQCRC1|7384|protein
MAASVVCRAATAGAQVLLRARRSPALLRTPALRSTATFAQALQFVPETQVSLLDNGLRVASEQSSQPTCTVGVWIDVGSRFETEKNNGAGYFLEHLAFKGTKNRP
GSALEKEVESMGAHLNAYSTREHTAYYIKALSKDLPKAVELLGDIVQNCSLEDSQIEKERDVILREMQENDASMRDVVFNYLHATAFQGTPLAQAVEGPSENVRK
LSRADLTEYLSTHYKAPRMVLAAAGGVEHQQLLDLAQKHLGGIPWTYAEDAVPTLTPCRFTGSEIRHRDDALPFAHVAIAVEGPGWASPDNVALQVANAIIGHYD
CTYGGGVHLSSPLASGAVANKLCQSFQTFSICYAETGLLGAHFVCDRMKIDDMMFVLQGQWMRLCTSATESEVARGKNILRNALVSHLDGTTPVCEDIGRSLLTY
GRRIPLAEWESRIAEVDASVVREICSKYIYDQCPAVAGYGPIEQLPDYNRIRSGMFWLRF
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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 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top