AutismKB 2.0

Evidence Details for LRRCC1


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Basic Information Top
Gene Symbol:LRRCC1 ( CLERC,KIAA1764,SAP2 )
Gene Full Name: leucine rich repeat and coiled-coil domain containing 1
Band: 8q21.2
Quick LinksEntrez ID:85444; OMIM: NA; Uniprot ID:LRCC1_HUMAN; ENSEMBL ID: ENSG00000133739; HGNC ID: 29373
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>LRRCC1|85444|nucleotide
ATGGAGGCGGCGGCGGCGGTGGTGGCGGCAGAGGCGGAAGTGGAAAACGAAGACGGCGACAGCAGCTGCGGGGATGTATGCTTCATGGACAAAGGCTTGCAGAGC
ATATCAGAATTATCTTTAGATTCAACTCTTCATGCCGTCAATCTTCATTGCAATAACATCTCCAAGATCGAAGCCATTGATCATATTTGGAATTTACAACATCTA
GATCTGTCATCTAATCAAATAAGTAGAATTGAAGGACTAAACACACTGACAAAACTGTGCACATTAAATTTGTCCTGCAATTTGATTACAAAAGTAGAAGGACTT
GAAGAACTAATTAATCTGACTAGACTAAATGTATCTTATAACCACATAGATGATCTTAGTGGATTGATTCCCCTTCATGGAATTAAGCATAAACTTAGATATATT
GATCTACATAGTAATCGTATAGATAGTATCCATCACTTACTTCAGTGTATGGTAGGATTGCACTTCCTGACCAATCTTATTTTGGAGAAAGATGGAGACGATAAT
CCTGTCTGTCGACTGCCAGGGTACAGAGCAGTTATTCTCCAGACTTTGCCACAGCTTAGAATCCTAGATTGCAAGAACATATTTGGTGAACCAGTAAATTTGACA
GAAATAAATTCATCACAGCTGCAGTGCCTAGAAGGTCTTTTGGATAATTTAGTTTCTTCTGATTCTCCCCTAAATATAAGTGAAGATGAGATCATTGATAGAATG
CCAGTGATAACAGCACCTATCGATGAGTTAGTTCCCTTGGAACAGTTTGCAAGTACACCAAGTGATGCTGTGTTGACGTCTTTTATGTCTGTGTGTCAATCTTCT
GAGCCAGAGAAAAATAATCATGAAAACGATTTGCAGAATGAGATAAAACTTCAGAAATTAGATGACCAAATTCTACAACTTCTAAATGAAACTTCTAATTCAATA
GATAACGTTCTTGAGAAAGACCCCAGACCAAAAAGAGACACAGATATAACTTCTGAAAGTGACTATGGAAACAGAAAAGAATGCAATAGAAAAGTTCCTCGAAGA
TCAAAAATCCCTTATGATGCCAAAACCATTCAAACTATTAAGCACCACAATAAAAACTACAACTCTTTTGTAAGTTGTAATCGTAAAATGAAACCACCTTACCTT
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>LRRCC1|85444|protein
MEAAAAVVAAEAEVENEDGDSSCGDVCFMDKGLQSISELSLDSTLHAVNLHCNNISKIEAIDHIWNLQHLDLSSNQISRIEGLNTLTKLCTLNLSCNLITKVEGL
EELINLTRLNVSYNHIDDLSGLIPLHGIKHKLRYIDLHSNRIDSIHHLLQCMVGLHFLTNLILEKDGDDNPVCRLPGYRAVILQTLPQLRILDCKNIFGEPVNLT
EINSSQLQCLEGLLDNLVSSDSPLNISEDEIIDRMPVITAPIDELVPLEQFASTPSDAVLTSFMSVCQSSEPEKNNHENDLQNEIKLQKLDDQILQLLNETSNSI
DNVLEKDPRPKRDTDITSESDYGNRKECNRKVPRRSKIPYDAKTIQTIKHHNKNYNSFVSCNRKMKPPYLKELYVSSSLANCPMLQESEKPKTEIIKVDQSHSED
NTYQSLVEQLDQEREKRWRAEQAENKLMDYIDELHKHANEKEDIHSLALLTTDRLKEIIFRERNSKGQLEVMVHKLQNEIKKLTVELMKAKDQQEDHLKHLRTLE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top