AutismKB 2.0

Evidence Details for SPOCD1


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Basic Information Top
Gene Symbol:SPOCD1 ( FLJ25348,FLJ39908 )
Gene Full Name: SPOC domain containing 1
Band: 1p35.2
Quick LinksEntrez ID:90853; OMIM: NA; Uniprot ID:SPOC1_HUMAN; ENSEMBL ID: ENSG00000134668; HGNC ID: 26338
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPOCD1|90853|nucleotide
ATGTCCCAGGCGGGGGACGTAGAAGGCCCCAGCACAGGAGACCCTGTGCTCAGTCCCCAACACAACTGTGAGCTTTTACAGAACATGGAAGGAGCCAGCTCCATG
CCAGGCCTGTCACCAGATGGGCCGGGAGCAAGCTCTGGGCCCGGAGTCAGGGCTGGCAGCAGAAGGAAGATCCCCAGGAAGGAGGCCCTTCGAGGTGGCAGCTCC
CGGGCTGCAGGTGCTGCTGAGGTCCGGCCAGGGGTCTTGGAGCTGCTAGCTGTGGTACAGAGCCGGGGCTCGATGCTGGCTCCTGGGCTCCACATGCAGCTGCCC
TCGGTGCCTACTCAGGGGAGAGCTCTGACCTCCAAGAGGCTCCAGGTTTCTCTGTGTGACATCTTAGATGACAGTTGCCCCAGGAAACTTTGTAGCAGGTCTGCT
GGCCTCCCAGAGAGAGCTCTGGCCTGCAGGGAGAGGCTTGCAGGAGTGGAGGAGGTGAGCTGCCTCAGGCCCAGGGAGGCCAGAGACGGTGGAATGAGTTCTCCA
GGGTGTGACAGAAGAAGCCCCACACTCAGCAAAGAGGAGCCCCCTGGAAGGCCCCTGACATCCTCACCAGACCCAGTCCCTGTGAGGGTAAGAAAGAAATGGAGG
AGGCAAGGGGCTCATTCAGAGTGTGAGGAAGGGGCTGGTGACTTCCTGTGGCTTGATCAGAGCCCTCGTGGGGACAACCTCCTGTCTGTGGGAGACCCTCCCCAA
GTTGCTGACCTGGAGTCCTTGGGAGGCCCTTGCAGACCTCCCTCTCCAAAAGACACTGGGTCTGGGCCTGGAGAGCCAGGTGGAAGTGGGGCAGGATGTGCCTCA
GGGACTGAGAAATTTGGATATTTGCCCGCTACAGGGGATGGGCCCCAGCCAGGCAGCCCCTGTGGCCCTGTCGGGTTCCCAGTGCCCAGTGGAGGGGAGTCCCTC
AGTTCAGCTGCACAGGCTCCTCCACAGAGCGCAGCACTGTGCCTGGGGGCGTCAGCACAGGCCTCTGCAGAGCAGCAAGAAGCTGTGTGTGTCGTGCGGACTGGC
AGCGATGAAGGCCAGGCTCCAGCACAGGACCAGGAGGAGCTGGAGGCCAAGGCTCAGCCAGCTTCCAGGGGAAGGCTGGAGCAAGGACTCGCTGCCCCCGCTGAC
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>SPOCD1|90853|protein
MSQAGDVEGPSTGDPVLSPQHNCELLQNMEGASSMPGLSPDGPGASSGPGVRAGSRRKIPRKEALRGGSSRAAGAAEVRPGVLELLAVVQSRGSMLAPGLHMQLP
SVPTQGRALTSKRLQVSLCDILDDSCPRKLCSRSAGLPERALACRERLAGVEEVSCLRPREARDGGMSSPGCDRRSPTLSKEEPPGRPLTSSPDPVPVRVRKKWR
RQGAHSECEEGAGDFLWLDQSPRGDNLLSVGDPPQVADLESLGGPCRPPSPKDTGSGPGEPGGSGAGCASGTEKFGYLPATGDGPQPGSPCGPVGFPVPSGGESL
SSAAQAPPQSAALCLGASAQASAEQQEAVCVVRTGSDEGQAPAQDQEELEAKAQPASRGRLEQGLAAPADTCASSREPLGGLSSSLDTEASRACSGPFMEQRRSK
GTKNLKKGPVPCAQDRGTDRSSDNSHQDRPEEPSPGGCPRLEEVKIPHGVKLVCYLGSGPVIQLLGAISHGQAGGQLPPKLEVLEDLMEVSSPSPAQRLRRKKRP
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top