AutismKB 2.0

Evidence Details for SCUBE1


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Basic Information Top
Gene Symbol:SCUBE1 ( - )
Gene Full Name: signal peptide, CUB domain, EGF-like 1
Band: 22q13.2
Quick LinksEntrez ID:80274; OMIM: 611746; Uniprot ID:SCUB1_HUMAN; ENSEMBL ID: ENSG00000159307; HGNC ID: 13441
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCUBE1|80274|nucleotide
ATGGGCGCGGCGGCCGTGCGCTGGCACTTGTGCGTGCTGCTGGCCCTGGGCACACGCGGGCGGCTGGCCGGGGGCAGCGGGCTCCCAGGGTCAGTCGACGTGGAT
GAGTGCTCAGAGGGCACAGATGACTGCCACATCGATGCCATCTGTCAGAACACGCCCAAGTCCTACAAATGCCTCTGCAAGCCAGGCTACAAGGGGGAAGGCAAG
CAGTGTGAAGACATTGACGAGTGTGAGAATGACTACTACAATGGGGGCTGTGTCCACGAGTGCATCAACATCCCGGGGAACTACAGGTGTACCTGCTTTGATGGC
TTCATGCTGGCACACGATGGACACAACTGCCTGGATGTGGACGAGTGTCAGGACAATAATGGTGGCTGCCAGCAGATCTGCGTCAATGCCATGGGCAGCTACGAG
TGTCAGTGCCACAGTGGCTTCTTCCTTAGTGACAACCAGCATACCTGCATCCACCGCTCCAATGAGGGTATGAACTGCATGAACAAAGACCATGGCTGTGCCCAC
ATCTGCCGGGAGACGCCCAAAGGTGGGGTGGCCTGCGACTGCAGGCCCGGCTTTGACCTTGCCCAAAACCAGAAGGACTGCACACTAACCTGTAATTATGGAAAC
GGAGGCTGCCAGCACAGCTGTGAGGACACAGACACAGGCCCCACGTGTGGTTGCCACCAGAAGTACGCCCTCCACTCAGACGGTCGCACGTGCATCGAGACGTGC
GCAGTCAATAACGGAGGCTGCGACCGGACATGCAAGGACACAGCCACTGGCGTGCGATGCAGCTGCCCCGTTGGATTCACACTGCAGCCGGACGGGAAGACATGC
AAAGACATCAACGAGTGCCTGGTCAACAACGGAGGCTGCGACCACTTCTGCCGCAACACCGTGGGCAGCTTCGAGTGCGGCTGCCGGAAGGGCTACAAGCTGCTC
ACCGACGAGCGCACCTGCCAGGACATCGACGAGTGCTCCTTCGAGCGGACCTGTGACCACATCTGCATCAACTCCCCGGGCAGCTTCCAGTGCCTGTGTCACCGC
GGCTACATCCTCTACGGGACAACCCACTGCGGAGATGTGGACGAGTGCAGCATGAGCAACGGGAGCTGTGACCAGGGCTGCGTCAACACCAAGGGCAGCTACGAG
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>SCUBE1|80274|protein
MGAAAVRWHLCVLLALGTRGRLAGGSGLPGSVDVDECSEGTDDCHIDAICQNTPKSYKCLCKPGYKGEGKQCEDIDECENDYYNGGCVHECINIPGNYRCTCFDG
FMLAHDGHNCLDVDECQDNNGGCQQICVNAMGSYECQCHSGFFLSDNQHTCIHRSNEGMNCMNKDHGCAHICRETPKGGVACDCRPGFDLAQNQKDCTLTCNYGN
GGCQHSCEDTDTGPTCGCHQKYALHSDGRTCIETCAVNNGGCDRTCKDTATGVRCSCPVGFTLQPDGKTCKDINECLVNNGGCDHFCRNTVGSFECGCRKGYKLL
TDERTCQDIDECSFERTCDHICINSPGSFQCLCHRGYILYGTTHCGDVDECSMSNGSCDQGCVNTKGSYECVCPPGRRLHWNGKDCVETGKCLSRAKTSPRAQLS
CSKAGGVESCFLSCPAHTLFVPDSENSYVLSCGVPGPQGKALQKRNGTSSGLGPSCSDAPTTPIKQKARFKIRDAKCHLRPHSQARAKETARQPLLDHCHVTFVT
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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) 1 (4) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (5)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top