AutismKB 2.0

Evidence Details for TCOF1


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Basic Information Top
Gene Symbol:TCOF1 ( MFD1,treacle )
Gene Full Name: Treacher Collins-Franceschetti syndrome 1
Band: 5q32-q33.1
Quick LinksEntrez ID:6949; OMIM: 606847; Uniprot ID:TCOF_HUMAN; ENSEMBL ID: ENSG00000070814; HGNC ID: 11654
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TCOF1|6949|nucleotide
ATGGCCGAGGCCAGGAAGCGGCGGGAGCTACTTCCCCTGATCTACCACCATCTGCTGCGGGCTGGCTATGTGCGTGCGGCGCGGGAAGTGAAGGAGCAGAGCGGC
CAGAAGTGTTTCCTGGCTCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAACAAACCTCAGAGCTTGGTCGGAAGCGGAAGGCAGAGGAAGATGCGGCA
CTGCAAGCTAAGAAAACCCGTGTGTCAGACCCCATCAGCACCTCGGAGAGCTCGGAAGAGGAGGAAGAAGCAGAAGCCGAAACCGCCAAAGCCACCCCAAGACTA
GCATCTACCAACTCCTCAGTCCTGGGGGCGGACTTGCCATCAAGCATGAAAGAAAAAGCCAAGGCAGAGACAGAGAAAGCTGGCAAGACTGGGAATTCCATGCCA
CACCCTGCCACTGGGAAGACGGTGGCCAACCTTCTTTCTGGGAAGTCTCCCAGGAAGTCAGCAGAGCCCTCAGCAAATACTACGTTGGTCTCAGAAACTGAGGAG
GAGGGCAGCGTCCCGGCCTTTGGAGCTGCTGCCAAGCCTGGGATGGTGTCAGCGGGCCAGGCCGACAGCTCCAGCGAGGACACCTCCAGCTCCAGTGATGAGACA
GACGTGGAGGTAAAGGCCTCTGAAAAAATTCTCCAGGTCAGAGCTGCCTCAGCCCCTGCCAAGGGGACCCCTGGGAAAGGGGCTACCCCAGCACCCCCTGGGAAG
GCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAGGACTCAGAGAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAG
GCCCTGCTTCAGGCGAAGGCCTCAGGAAAAACCTCTCAGGTCGGAGCTGCCTCAGCCCCTGCCAAGGAGTCCCCCAGGAAAGGAGCTGCCCCAGCGCCCCCTGGG
AAGACAGGGCCTGCAGTTGCCAAGGCCCAGGCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGAGGAGGAGGCGCCTGCTCAGGCG
AAGCCTTCAGGGAAGGCCCCCCAGGTCAGAGCCGCCTCGGCCCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAGCACCTCCTAGGAAAACAGGGCCTGCA
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>TCOF1|6949|protein
MAEARKRRELLPLIYHHLLRAGYVRAAREVKEQSGQKCFLAQPVTLLDIYTHWQQTSELGRKRKAEEDAALQAKKTRVSDPISTSESSEEEEEAEAETAKATPRL
ASTNSSVLGADLPSSMKEKAKAETEKAGKTGNSMPHPATGKTVANLLSGKSPRKSAEPSANTTLVSETEEEGSVPAFGAAAKPGMVSAGQADSSSEDTSSSSDET
DVEVKASEKILQVRAASAPAKGTPGKGATPAPPGKAGAVASQTKAGKPEEDSESSSEESSDSEEETPAAKALLQAKASGKTSQVGAASAPAKESPRKGAAPAPPG
KTGPAVAKAQAGKREEDSQSSSEESDSEEEAPAQAKPSGKAPQVRAASAPAKESPRKGAAPAPPRKTGPAAAQVQVGKQEEDSRSSSEESDSDREALAAMNAAQV
KPLGKSPQVKPASTMGMGPLGKGAGPVPPGKVGPATPSAQVGKWEEDSESSSEESSDSSDGEVPTAVAPAQEKSLGNILQAKPTSSPAKGPPQKAGPVAVQVKAE
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top