AutismKB 2.0

Evidence Details for LRPPRC


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Basic Information Top
Gene Symbol:LRPPRC ( CLONE-23970,GP130,LRP130,LSFC )
Gene Full Name: leucine-rich PPR-motif containing
Band: 2p21
Quick LinksEntrez ID:10128; OMIM: 607544; Uniprot ID:LPPRC_HUMAN; ENSEMBL ID: ENSG00000138095; HGNC ID: 15714
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRPPRC|10128|nucleotide
ATGGCAGCCCTGCTGAGATCCGCGCGTTGGTTGCTGCGTGCCGGGGCGGCCCCGCGCCTCCCGCTCTCCCTGCGCCTCCTCCCTGGCGGCCCGGGCCGGCTGCAT
GCCGCCTCCTATCTGCCCGCCGCTCGCGCCGGGCCCGTGGCCGGAGGACTACTGAGCCCAGCCAGGCTGTATGCCATTGCTGCCAAAGAAAAAGATATTCAAGAG
GAGTCCACTTTTTCTTCTAGGAAGATTTCCAATCAGTTTGATTGGGCTCTAATGAGACTAGATCTTTCTGTTCGAAGAACTGGCCGCATTCCAAAGAAGCTTCTA
CAAAAAGTTTTTAATGATACCTGCCGCTCAGGTGGCCTAGGTGGTAGTCATGCCTTGCTTCTACTACGTAGTTGTGGTTCTCTCTTGCCTGAACTAAAGCTTGAA
GAGAGAACAGAATTTGCTCATAGGATATGGGACACACTTCAGAAATTAGGTGCTGTGTATGATGTGAGTCACTATAATGCTTTACTTAAAGTCTATCTTCAAAAT
GAATATAAATTCTCACCAACTGATTTCCTGGCAAAAATGGAGGAAGCAAACATTCAACCAAATCGAGTGACATACCAGAGATTGATTGCTTCTTATTGTAATGTA
GGAGATATTGAAGGTGCCAGCAAGATTCTTGGATTTATGAAAACTAAGGATCTCCCAGTTACAGAGGCAGTATTCAGTGCCCTTGTGACAGGGCATGCCAGAGCT
GGTGATATGGAGAATGCAGAAAACATTCTCACAGTGATGAGAGATGCCGGAATTGAGCCTGGTCCAGACACATACCTCGCATTATTGAATGCATATGCTGAGAAG
GGCGACATTGACCATGTTAAGCAGACTCTGGAGAAGGTGGAGAAGTCCGAGCTTCACCTTATGGACCGTGATTTACTGCAAATTATTTTTAGCTTCAGTAAAGCT
GGGTATCCTCAGTATGTCTCAGAAATTTTGGAAAAAGTTACATGTGAAAGAAGATATATTCCAGATGCAATGAACCTCATTTTACTTTTAGTCACTGAAAAATTG
GAAGATGTAGCGTTGCAAATTTTACTAGCATGCCCCGTATCAAAGGAAGATGGCCCAAGTGTCTTTGGCAGTTTCTTTTTACAACACTGTGTGACTATGAATACG
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>LRPPRC|10128|protein
MAALLRSARWLLRAGAAPRLPLSLRLLPGGPGRLHAASYLPAARAGPVAGGLLSPARLYAIAAKEKDIQEESTFSSRKISNQFDWALMRLDLSVRRTGRIPKKLL
QKVFNDTCRSGGLGGSHALLLLRSCGSLLPELKLEERTEFAHRIWDTLQKLGAVYDVSHYNALLKVYLQNEYKFSPTDFLAKMEEANIQPNRVTYQRLIASYCNV
GDIEGASKILGFMKTKDLPVTEAVFSALVTGHARAGDMENAENILTVMRDAGIEPGPDTYLALLNAYAEKGDIDHVKQTLEKVEKSELHLMDRDLLQIIFSFSKA
GYPQYVSEILEKVTCERRYIPDAMNLILLLVTEKLEDVALQILLACPVSKEDGPSVFGSFFLQHCVTMNTPVEKLTDYCKKLKEVQMHSFPLQFTLHCALLANKT
DLAKALMKAVKEEGFPIRPHYFWPLLVGRRKEKNVQGIIEILKGMQELGVHPDQETYTDYVIPCFDSVNSARAILQENGCLSDSDMFSQAGLRSEAANGNLDFVL
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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