AutismKB 2.0

Evidence Details for TBCEL


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Basic Information Top
Gene Symbol:TBCEL ( El,FLJ14177,LRRC35,MGC10233 )
Gene Full Name: tubulin folding cofactor E-like
Band: 11q23.3
Quick LinksEntrez ID:219899; OMIM: 610451; Uniprot ID:TBCEL_HUMAN; ENSEMBL ID: ENSG00000154114; HGNC ID: 28115
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TBCEL|219899|nucleotide
ATGGATCAACCTAGTGGAAGAAGTTTCATGCAAGTATTATGTGAAAAATATAGTCCTGAAAATTTTCCTTATCGCCGTGGCCCGGGGATGGGAGTCCATGTCCCA
GCCACACCTCAGGGCTCTCCTATGAAAGATCGCCTCAACCTCCCAAGTGTACTAGTGTTGAACAGCTGTGGAATAACCTGTGCAGGAGATGAAAAAGAAATTGCT
GCTTTCTGCGCTCATGTGTCGGAACTAGATCTTTCTGACAACAAACTCGAAGACTGGCATGAGGTCAGTAAAATTGTGTCAAATGTTCCTCAGTTGGAGTTTCTA
AACCTGAGTTCCAACCCTCTGAATTTGTCGGTTTTAGAAAGAACATGTGCTGGGTCCTTCTCTGGGGTTCGCAAACTTGTCCTCAACAACAGCAAAGCTTCTTGG
GAGACGGTCCACATGATACTACAGGAGTTACCAGATTTGGAGGAGCTCTTCCTGTGCCTTAATGACTATGAAACAGTGTCTTGTCCTTCTATTTGCTGTCATTCT
CTTAAGCTACTACATATAACAGACAATAACCTCCAAGACTGGACTGAAATACGAAAGTTAGGAGTTATGTTTCCTTCACTGGATACCCTCGTCCTGGCCAACAAT
CATTTGAATGCTATTGAGGAGCCTGATGATTCATTGGCCAGGTTGTTTCCTAATCTTCGATCCATCAGCCTCCACAAGTCAGGTTTGCAGTCCTGGGAAGACATT
GATAAACTAAATTCATTTCCCAAACTGGAAGAAGTGAGATTGTTAGGAATTCCTCTTCTGCAGCCATATACCACCGAGGAGCGAAGGAAATTGGTAATAGCCAGA
TTGCCATCAGTTTCCAAACTTAATGGCAGCGTTGTTACTGATGGTGAACGAGAAGATTCTGAGAGATTTTTTATTCGTTACTATGTGGATGTTCCACAGGAAGAA
GTGCCATTCAGGTATCATGAACTGATCACTAAATATGGGAAGTTGGAGCCTTTGGCAGAAGTGGACCTAAGACCCCAGAGCAGTGCAAAAGTAGAAGTCCACTTT
AACGATCAGGTGGAAGAAATGAGCATTCGTCTGGACCAAACAGTGGCAGAACTAAAGAAACAGTTAAAAACTCTAGTACAATTACCCACAAGCAACATGCTTCTC
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>TBCEL|219899|protein
MDQPSGRSFMQVLCEKYSPENFPYRRGPGMGVHVPATPQGSPMKDRLNLPSVLVLNSCGITCAGDEKEIAAFCAHVSELDLSDNKLEDWHEVSKIVSNVPQLEFL
NLSSNPLNLSVLERTCAGSFSGVRKLVLNNSKASWETVHMILQELPDLEELFLCLNDYETVSCPSICCHSLKLLHITDNNLQDWTEIRKLGVMFPSLDTLVLANN
HLNAIEEPDDSLARLFPNLRSISLHKSGLQSWEDIDKLNSFPKLEEVRLLGIPLLQPYTTEERRKLVIARLPSVSKLNGSVVTDGEREDSERFFIRYYVDVPQEE
VPFRYHELITKYGKLEPLAEVDLRPQSSAKVEVHFNDQVEEMSIRLDQTVAELKKQLKTLVQLPTSNMLLYYFDHEAPFGPEEMKYSSRALHSFGIRDGDKIYVE
SKTK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top