AutismKB 2.0

Evidence Details for CPT1B


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Basic Information Top
Gene Symbol:CPT1B ( CPT1-M,CPT1M,CPTI,CPTI-M,FLJ55729,FLJ58750,KIAA1670,M-CPT1,MCCPT1,MCPT1 )
Gene Full Name: carnitine palmitoyltransferase 1B (muscle)
Band: 22q13.33
Quick LinksEntrez ID:1375; OMIM: 601987; Uniprot ID:CPT1B_HUMAN; ENSEMBL ID: ENSG00000205560; HGNC ID: 2329
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CPT1B|1375|nucleotide
ATGGCGGAAGCTCACCAGGCCGTGGCCTTCCAGTTCACGGTGACCCCAGACGGGGTCGACTTCCGGCTCAGTCGGGAGGCCCTGAAACACGTCTACCTGTCTGGG
ATCAACTCCTGGAAGAAACGCCTGATCCGCATCAAGAATGGCATCCTCAGGGGCGTGTACCCTGGCAGCCCCACCAGCTGGCTGGTCGTCATCATGGCAACAGTG
GGTTCCTCCTTCTGCAACGTGGACATCTCCTTGGGGCTGGTCAGTTGCATCCAGAGATGCCTCCCTCAGGGGTGTGGCCCCTACCAGACCCCGCAGACCCGGGCA
CTTCTCAGCATGGCCATCTTCTCCACGGGCGTCTGGGTGACGGGCATCTTCTTCTTCCGCCAAACCCTGAAGCTGCTTCTCTGCTACCATGGGTGGATGTTTGAG
ATGCATGGCAAGACCAGCAACTTGACCAGGATCTGGGCTTACCTAGAGTCTGTGCGCCCCTTGTTGGATGATGAGGAATATTACCGCATGGAGTTGCTGGCCAAA
GAATTCCAGGACAAGACTGCCCCCAGGCTGCAGAAATACCTGGTGCTCAAGTCATGGTGGGCAAGTAACTATGTGAGTGACTGGTGGGAAGAGTACATCTACCTT
CGAGGCAGGAGCCCTCTCATGGTGAACAGCAACTATTATGTCATGGACCTTGTGCTCATCAAGAATACAGACGTGCAGGCAGCCCGCCTGGGAAACATCATCCAC
GCCATGATCATGTATCGCCGTAAACTGGACCGTGAAGAAATCAAGCCTGTGATGGCACTGGGCATAGTGCCTATGTGCTCCTACCAGATGGAGAGGATGTTCAAC
ACCACTCGGATCCCGGGCAAGGACACAGATGTGCTACAGCACCTCTCAGACAGCCGGCACGTGGCTGTCTACCACAAGGGACGCTTCTTCAAGCTGTGGCTCTAT
GAGGGCGCCCGTCTGCTCAAGCCTCAGGATCTGGAGATGCAGTTCCAGAGGATCCTGGACGACCCCTCCCCACCTCAGCCTGGGGAGGAGAAGCTGGCAGCCCTC
ACTGCAGGAGGAAGGGTGGAGTGGGCGCAGGCACGCCAGGCCTTCTTTAGCTCTGGAAAGAATAAGGCTGCCTTGGAGGCCATCGAGCGTGCCGCTTTCTTCGTG
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>CPT1B|1375|protein
MAEAHQAVAFQFTVTPDGVDFRLSREALKHVYLSGINSWKKRLIRIKNGILRGVYPGSPTSWLVVIMATVGSSFCNVDISLGLVSCIQRCLPQGCGPYQTPQTRA
LLSMAIFSTGVWVTGIFFFRQTLKLLLCYHGWMFEMHGKTSNLTRIWAYLESVRPLLDDEEYYRMELLAKEFQDKTAPRLQKYLVLKSWWASNYVSDWWEEYIYL
RGRSPLMVNSNYYVMDLVLIKNTDVQAARLGNIIHAMIMYRRKLDREEIKPVMALGIVPMCSYQMERMFNTTRIPGKDTDVLQHLSDSRHVAVYHKGRFFKLWLY
EGARLLKPQDLEMQFQRILDDPSPPQPGEEKLAALTAGGRVEWAQARQAFFSSGKNKAALEAIERAAFFVALDEESYSYDPEDEASLSLYGKALLHGNCYNRWFD
KSFTLISFKNGQLGLNAEHAWADAPIIGHLWEFVLGTDSFHLGYTETGHCLGKPNPALAPPTRLQWDIPKQCQAVIESSYQVAKALADDVELYCFQFLPFGKGLI
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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) 2 (8) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 4 (10)
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
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Bi C, 2012 China GAII- - - - 67 -
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018