AutismKB 2.0

Evidence Details for DCBLD2


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Basic Information Top
Gene Symbol:DCBLD2 ( CLCP1,ESDN )
Gene Full Name: discoidin, CUB and LCCL domain containing 2
Band: 3q12.1
Quick LinksEntrez ID:131566; OMIM: 608698; Uniprot ID:DCBD2_HUMAN; ENSEMBL ID: ENSG00000057019; HGNC ID: 24627
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DCBLD2|131566|nucleotide
ATGGCGAGCCGGGCGGTGGTGAGAGCCAGGCGCTGCCCGCAGTGTCCCCAAGTCCGGGCCGCGGCCGCCGCCCCCGCCTGGGCCGCGCTCCCCCTCTCCCGCTCC
CTCCCTCCCTGCTCCAACTCCTCCTCCTTCTCCATGCCTCTGTTCCTCCTGCTCTTACTTGTCCTGCTCCTGCTGCTCGAGGACGCTGGAGCCCAGCAAGGTGAT
GGATGTGGACACACTGTACTAGGCCCTGAGAGTGGAACCCTTACATCCATAAACTACCCACAGACCTATCCCAACAGCACTGTTTGTGAATGGGAGATCCGTGTA
AAGATGGGAGAGAGAGTTCGCATCAAATTTGGTGACTTTGACATTGAAGATTCTGATTCTTGTCACTTTAATTACTTGAGAATTTATAATGGAATTGGAGTCAGC
AGAACTGAAATAGGCAAATACTGTGGTCTGGGGTTGCAAATGAACCATTCAATTGAATCAAAAGGCAATGAAATCACATTGCTGTTCATGAGTGGAATCCATGTT
TCTGGACGCGGATTTTTGGCCTCATACTCTGTTATAGATAAACAAGATCTAATTACTTGTTTGGACACTGCATCCAATTTTTTGGAACCTGAGTTCAGTAAGTAC
TGCCCAGCTGGTTGTCTGCTTCCTTTTGCTGAGATATCTGGAACAATTCCTCATGGATATAGAGATTCCTCGCCATTGTGCATGGCTGGTGTGCATGCAGGAGTA
GTGTCAAACACGTTGGGCGGCCAAATCAGTGTTGTAATTAGTAAAGGTATCCCCTATTATGAAAGTTCTTTGGCTAACAACGTCACATCTGTGGTGGGACACTTA
TCTACAAGTCTTTTTACATTTAAGACAAGTGGATGTTATGGAACACTGGGGATGGAGTCTGGTGTGATCGCGGATCCTCAAATAACAGCATCATCTGTGCTGGAG
TGGACTGACCACACAGGGCAAGAGAACAGTTGGAAACCCAAAAAAGCCAGGCTGAAAAAACCTGGACCGCCTTGGGCTGCTTTTGCCACTGATGAATACCAGTGG
TTACAAATAGATTTGAATAAGGAAAAGAAAATAACAGGCATTATAACCACTGGATCCACCATGGTGGAGCACAATTACTATGTGTCTGCCTACAGAATCCTGTAC
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>DCBLD2|131566|protein
MASRAVVRARRCPQCPQVRAAAAAPAWAALPLSRSLPPCSNSSSFSMPLFLLLLLVLLLLLEDAGAQQGDGCGHTVLGPESGTLTSINYPQTYPNSTVCEWEIRV
KMGERVRIKFGDFDIEDSDSCHFNYLRIYNGIGVSRTEIGKYCGLGLQMNHSIESKGNEITLLFMSGIHVSGRGFLASYSVIDKQDLITCLDTASNFLEPEFSKY
CPAGCLLPFAEISGTIPHGYRDSSPLCMAGVHAGVVSNTLGGQISVVISKGIPYYESSLANNVTSVVGHLSTSLFTFKTSGCYGTLGMESGVIADPQITASSVLE
WTDHTGQENSWKPKKARLKKPGPPWAAFATDEYQWLQIDLNKEKKITGIITTGSTMVEHNYYVSAYRILYSDDGQKWTVYREPGVEQDKIFQGNKDYHQDVRNNF
LPPIIARFIRVNPTQWQQKIAMKMELLGCQFIPKGRPPKLTQPPPPRNSNDLKNTTAPPKIAKGRAPKFTQPLQPRSSNEFPAQTEQTTASPDIRNTTVTPNVTK
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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 (1) 0 (0) 0 (1) 0 (0) 0 (3)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top