AutismKB 2.0

Evidence Details for SPICE1


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Basic Information Top
Gene Symbol:SPICE1 ( CCDC52,FLJ26064,FLJ44949,SPICE )
Gene Full Name: spindle and centriole associated protein 1
Band: 3q13.2
Quick LinksEntrez ID:152185; OMIM: 613447; Uniprot ID:SPICE_HUMAN; ENSEMBL ID: ENSG00000163611; HGNC ID: 25083
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPICE1|152185|nucleotide
ATGTCATTTGTCAGAGTGAACCGCTGTGGTCCCCGAGTTGGTGTAAGAAAGACACCGAAAGTAAAGAAGAAGAAAACTTCAGTGAAACAAGAATGGGATAATACC
GTGACTGATCTAACCGTTCATCGGGCAACTCCCGAAGATCTGGTACGCCGTCATGAAATACACAAATCGAAGAATAGAGCATTAGTACACTGGGAACTCCAAGAA
AAAGCTTTGAAGAGAAAATGGAGGAAGCAGAAACCAGAAACTTTAAATCTTGAGAAAAGAAGATTGTCTATCATGAAGGAGATTCTTTCTGATCAATACCAGATG
CAAGATGTGTTGGAGAAATCTGATCATCTAATAGCTGCAGCAAAAGAGCTGTTTCCTCGTAGGCGCACAGGGTTTCCAAATGTAACAGTGGCTCCTGATTCCTCT
CAGGGTCCCATTGTGGTAAATCAAGACCCTATCACCCAATCTATCTTTAATGAGTCTGTCATAGAACCTCAGGCTCTTAATGATGTAGATGGTGAAGAAGAAGGA
ACTGTTAATAGCCAGTCAGGAGAAAGTGAGAATGAGAATGAGTTGGATAACTCTCTAAACTCTCAGTCTAACACGAATACAGACAGGTTTCTCCAACAACTAACA
GAAGAGAATTTTGAGTTAATTAGTAAGTTGTGGACTGACATTCAGCAGAAAATAGCAACCCAGTCACAAATAACTCCTCCAGGAACGCCATCATCTGCTCTTTCA
TCAGGGGAGCAAAGAGCTGCTCTGAATGCTACCAATGCTGTCAAGAGACTCCAAACCAGGCTTCAGCCTGAAGAATCTACTGAGACTCTAGACTCAAGCTACGTT
GTGGGACACGTGCTGAACTCAAGGAAGCAAAAACAGCTGTTAAATAAAGTGAAAAGGAAACCGAATTTGCATGCTCTTTCCAAGCCGAAGAAAAACATATCATCA
GGTAGCACAACCTCTGCAGACTTACCAAATAGGACTAATTCCAACCTGGATGTCCTCAAACACATGATACATGAAGTGGAACATGAAATGGAAGAATATGAGCGG
TGGACAGGTCGCGAGGTCAAGGGTCTGCAGAGCAGTCAGGGTCTTACAGGCTTCACTTTGTCGCTGGTGAGCTCCCTCTGTCGCCTGGTTCGGTACCTTAAAGAG
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>SPICE1|152185|protein
MSFVRVNRCGPRVGVRKTPKVKKKKTSVKQEWDNTVTDLTVHRATPEDLVRRHEIHKSKNRALVHWELQEKALKRKWRKQKPETLNLEKRRLSIMKEILSDQYQM
QDVLEKSDHLIAAAKELFPRRRTGFPNVTVAPDSSQGPIVVNQDPITQSIFNESVIEPQALNDVDGEEEGTVNSQSGESENENELDNSLNSQSNTNTDRFLQQLT
EENFELISKLWTDIQQKIATQSQITPPGTPSSALSSGEQRAALNATNAVKRLQTRLQPEESTETLDSSYVVGHVLNSRKQKQLLNKVKRKPNLHALSKPKKNISS
GSTTSADLPNRTNSNLDVLKHMIHEVEHEMEEYERWTGREVKGLQSSQGLTGFTLSLVSSLCRLVRYLKESEIQLRKEVETRQQLEQVLGDHRELIDALTAEILR
LREENAATQARLQQYMVTTDEQLISLTHAIKNCPVINNRQEIQASESGATGRRVMDSPERPVVNANVSVPLMFREEVAEFPQEELPVKLSQVPDPPDNMNLAKNF
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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 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Fan Y, 2016 China CMA--autism - - - - 3 - 3
Linkage Studies Top