AutismKB 2.0

Evidence Details for TERF2


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Basic Information Top
Gene Symbol:TERF2 ( TRBF2,TRF2 )
Gene Full Name: telomeric repeat binding factor 2
Band: 16q22.1
Quick LinksEntrez ID:7014; OMIM: 602027; Uniprot ID:TERF2_HUMAN; ENSEMBL ID: ENSG00000132604; HGNC ID: 11729
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TERF2|7014|nucleotide
ATGGCGGGAGGAGGCGGGAGTAGCGACGGCAGCGGGCGGGCAGCTGGCAGGCGGGCGTCCCGCAGTAGCGGGCGGGCCCGGCGGGGGCGCCACGAGCCGGGGCTG
GGGGGCCCGGCGGAGCGCGGCGCGGGGGAGGCACGGCTGGAAGAGGCAGTCAATCGCTGGGTGCTCAAGTTCTACTTCCACGAGGCGCTGCGGGCCTTTCGGGGT
AGCCGGTACGGGGACTTCAGACAGATCCGGGACATCATGCAGGCTTTGCTTGTCAGGCCCTTGGGGAAGGAGCACACCGTGTCCCGATTGCTGCGGGTTATGCAG
TGTCTGTCGCGGATTGAAGAAGGGGAAAATTTAGACTGTTCCTTTGATATGGAGGCTGAGCTCACACCACTGGAATCAGCTATCAATGTGCTGGAGATGATTAAA
ACGGAATTTACACTGACAGAAGCAGTGGTCGAATCCAGTAGAAAACTGGTCAAGGAAGCTGCTGTCATTATTTGTATCAAAAACAAAGAATTTGAAAAGGCTTCA
AAAATTTTGAAAAAACATATGTCCAAGGACCCCACAACTCAGAAGCTGAGAAATGATCTCCTGAATATTATTCGAGAAAAGAACTTGGCCCATCCTGTTATCCAG
AACTTTTCATATGAGACCTTCCAGCAGAAGATGCTGCGCTTCCTGGAGAGCCACCTGGATGACGCCGAGCCCTACCTCCTCACGATGGCCAAAAAGGCTTTGAAA
TCTGAGTCCGCTGCCTCAAGTACAGGGAAGGAAGATAAACAGCCAGCACCAGGGCCTGTGGAAAAGCCACCCAGAGAACCCGCAAGGCAGCTACGGAATCCTCCA
ACCACCATTGGAATGATGACTCTGAAAGCAGCTTTCAAGACTCTGTCTGGTGCACAGGATTCTGAGGCAGCCTTTGCAAAACTGGACCAGAAGGATCTGGTTCTT
CCTACTCAAGCTCTCCCAGCATCACCAGCCCTCAAAAACAAGAGACCCAGAAAAGATGAAAACGAAAGTTCAGCCCCGGCTGACGGTGAGGGTGGCTCGGAACTG
CAGCCCAAGAACAAGCGCATGACAATAAGCAGATTGGTCTTGGAGGAGGACAGCCAGAGTACTGAGCCCAGCGCAGGCCTCAACTCCTCCCAGGAGGCCGCTTCA
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>TERF2|7014|protein
MAGGGGSSDGSGRAAGRRASRSSGRARRGRHEPGLGGPAERGAGEARLEEAVNRWVLKFYFHEALRAFRGSRYGDFRQIRDIMQALLVRPLGKEHTVSRLLRVMQ
CLSRIEEGENLDCSFDMEAELTPLESAINVLEMIKTEFTLTEAVVESSRKLVKEAAVIICIKNKEFEKASKILKKHMSKDPTTQKLRNDLLNIIREKNLAHPVIQ
NFSYETFQQKMLRFLESHLDDAEPYLLTMAKKALKSESAASSTGKEDKQPAPGPVEKPPREPARQLRNPPTTIGMMTLKAAFKTLSGAQDSEAAFAKLDQKDLVL
PTQALPASPALKNKRPRKDENESSAPADGEGGSELQPKNKRMTISRLVLEEDSQSTEPSAGLNSSQEAASAPPSKPTVLNQPLPGEKNPKVPKGKWNSSNGVEEK
ETWVEEDELFQVQAAPDEDSTTNITKKQKWTVEESEWVKAGVQKYGEGNWAAISKNYPFVNRTAVMIKDRWRTMKRLGMN
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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) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top