AutismKB 2.0

Evidence Details for CR1


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Basic Information Top
Gene Symbol:CR1 ( C3BR,C4BR,CD35,KN )
Gene Full Name: complement component (3b/4b) receptor 1 (Knops blood group)
Band: 1q32.2
Quick LinksEntrez ID:1378; OMIM: 120620; Uniprot ID:CR1_HUMAN; ENSEMBL ID: ENSG00000203710; HGNC ID: 2334
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CR1|1378|nucleotide
ATGGGGGCCTCTTCTCCAAGAAGCCCGGAGCCTGTCGGGCCGCCGGCGCCCGGTCTCCCCTTCTGCTGCGGAGGATCCCTGCTGGCGGTTGTGGTGCTGCTTGCG
CTGCCGGTGGCCTGGGGTCAATGCAATGCCCCAGAATGGCTTCCATTTGCCAGGCCTACCAACCTAACTGATGAATTTGAGTTTCCCATTGGGACATATCTGAAC
TATGAATGCCGCCCTGGTTATTCCGGAAGACCGTTTTCTATCATCTGCCTAAAAAACTCAGTCTGGACTGGTGCTAAGGACAGGTGCAGACGTAAATCATGTCGT
AATCCTCCAGATCCTGTGAATGGCATGGTGCATGTGATCAAAGGCATCCAGTTCGGATCCCAAATTAAATATTCTTGTACTAAAGGATACCGACTCATTGGTTCC
TCGTCTGCCACATGCATCATCTCAGGTGATACTGTCATTTGGGATAATGAAACACCTATTTGTGACAGAATTCCTTGTGGGCTACCCCCCACCATCACCAATGGA
GATTTCATTAGCACCAACAGAGAGAATTTTCACTATGGATCAGTGGTGACCTACCGCTGCAATCCTGGAAGCGGAGGGAGAAAGGTGTTTGAGCTTGTGGGTGAG
CCCTCCATATACTGCACCAGCAATGACGATCAAGTGGGCATCTGGAGCGGCCCCGCCCCTCAGTGCATTATACCTAACAAATGCACGCCTCCAAATGTGGAAAAT
GGAATATTGGTATCTGACAACAGAAGCTTATTTTCCTTAAATGAAGTTGTGGAGTTTAGGTGTCAGCCTGGCTTTGTCATGAAAGGACCCCGCCGTGTGAAGTGC
CAGGCCCTGAACAAATGGGAGCCGGAGCTACCAAGCTGCTCCAGGGTATGTCAGCCACCTCCAGATGTCCTGCATGCTGAGCGTACCCAAAGGGACAAGGACAAC
TTTTCACCTGGGCAGGAAGTGTTCTACAGCTGTGAGCCCGGCTACGACCTCAGAGGGGCTGCGTCTATGCGCTGCACACCCCAGGGAGACTGGAGCCCTGCAGCC
CCCACATGTGAAGTGAAATCCTGTGATGACTTCATGGGCCAACTTCTTAATGGCCGTGTGCTATTTCCAGTAAATCTCCAGCTTGGAGCAAAAGTGGATTTTGTT
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>CR1|1378|protein
MGASSPRSPEPVGPPAPGLPFCCGGSLLAVVVLLALPVAWGQCNAPEWLPFARPTNLTDEFEFPIGTYLNYECRPGYSGRPFSIICLKNSVWTGAKDRCRRKSCR
NPPDPVNGMVHVIKGIQFGSQIKYSCTKGYRLIGSSSATCIISGDTVIWDNETPICDRIPCGLPPTITNGDFISTNRENFHYGSVVTYRCNPGSGGRKVFELVGE
PSIYCTSNDDQVGIWSGPAPQCIIPNKCTPPNVENGILVSDNRSLFSLNEVVEFRCQPGFVMKGPRRVKCQALNKWEPELPSCSRVCQPPPDVLHAERTQRDKDN
FSPGQEVFYSCEPGYDLRGAASMRCTPQGDWSPAAPTCEVKSCDDFMGQLLNGRVLFPVNLQLGAKVDFVCDEGFQLKGSSASYCVLAGMESLWNSSVPVCEQIF
CPSPPVIPNGRHTGKPLEVFPFGKTVNYTCDPHPDRGTSFDLIGESTIRCTSDPQGNGVWSSPAPRCGILGHCQAPDHFLFAKLKTQTNASDFPIGTSLKYECRP
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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) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top