AutismKB 2.0

Evidence Details for PCYT1B


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Basic Information Top
Gene Symbol:PCYT1B ( CCTB,CTB )
Gene Full Name: phosphate cytidylyltransferase 1, choline, beta
Band: Xp22.11
Quick LinksEntrez ID:9468; OMIM: 604926; Uniprot ID:PCY1B_HUMAN; ENSEMBL ID: ENSG00000102230; HGNC ID: 8755
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCYT1B|9468|nucleotide
ATGGTAGGCCATCAGGAGTGCATCATGGAAGAGGACAATCGCGCTCCCCAATTGTGGCGCAAGACCCTGACTGCACCTGCCCCATTTGCTGATGAAACCAACTGC
CAGTGTCAAGCACCCCATGAAAAACTGACCATTGCTCAGGCCCGCTTAGGAACACCAGCTGACAGGCCTGTCAGAGTATACGCCGATGGAATATTTGACCTCTTC
CACTCAGGTCATGCAAGAGCCCTTATGCAAGCAAAAACACTGTTTCCCAACAGCTACTTGTTGGTAGGAGTTTGCAGTGATGATCTCACCCACAAATTCAAAGGT
TTCACCGTGATGAATGAAGCCGAGAGATACGAAGCTCTCAGACACTGTCGCTACGTAGACGAAGTTATCAGAGATGCTCCCTGGACACTCACGCCAGAGTTTCTG
GAAAAACACAAGATTGACTTTGTGGCTCATGATGACATTCCGTATTCCTCTGCTGGCTCTGATGATGTTTACAAGCACATAAAGGAAGCAGGGATGTTCGTTCCA
ACGCAGAGAACAGAAGGCATCTCAACATCGGACATCATTACCAGAATTGTTCGTGACTATGATGTTTATGCCCGACGTAACCTCCAGAGAGGGTATACAGCCAAG
GAACTGAATGTCAGCTTTATAAATGAGAAGAGGTACCGTTTCCAGAACCAAGTGGACAAAATGAAGGAAAAAGTCAAGAATGTGGAGGAAAGATCAAAGGAATTT
GTGAACAGAGTGGAAGAAAAGAGCCATGATCTAATTCAAAAGTGGGAAGAGAAGTCAAGGGAATTCATTGGCAACTTCCTAGAACTGTTTGGACCTGATGGAGCA
TGGAAGCAGATGTTCCAGGAGAGGAGCAGCCGGATGCTGCAGGCCTTATCCCCGAAGCAGAGCCCTGTGAGCAGCCCAACCCGGAGCCGGTCCCCTTCCCGCTCC
CCATCGCCCACCTTCTCATGGCTTCCACTCAAAACCTCACCCCCTTCCTCACCCAAAGCAGCCTCAGCCTCTATCAGCAGCATGAGCGAGGGGGATGAGGATGAA
AAGTAG
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>PCYT1B|9468|protein
MVGHQECIMEEDNRAPQLWRKTLTAPAPFADETNCQCQAPHEKLTIAQARLGTPADRPVRVYADGIFDLFHSGHARALMQAKTLFPNSYLLVGVCSDDLTHKFKG
FTVMNEAERYEALRHCRYVDEVIRDAPWTLTPEFLEKHKIDFVAHDDIPYSSAGSDDVYKHIKEAGMFVPTQRTEGISTSDIITRIVRDYDVYARRNLQRGYTAK
ELNVSFINEKRYRFQNQVDKMKEKVKNVEERSKEFVNRVEEKSHDLIQKWEEKSREFIGNFLELFGPDGAWKQMFQERSSRMLQALSPKQSPVSSPTRSRSPSRS
PSPTFSWLPLKTSPPSSPKAASASISSMSEGDEDEK

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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) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top