AutismKB 2.0

Evidence Details for TERF2IP


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Basic Information Top
Gene Symbol:TERF2IP ( DRIP5,RAP1 )
Gene Full Name: telomeric repeat binding factor 2, interacting protein
Band: 16q23.1
Quick LinksEntrez ID:54386; OMIM: 605061; Uniprot ID:TE2IP_HUMAN; ENSEMBL ID: ENSG00000166848; HGNC ID: 19246
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TERF2IP|54386|nucleotide
ATGGCGGAGGCGATGGATTTGGGCAAAGACCCCAACGGGCCCACCCATTCCTCGACTCTGTTCGTGAGGGACGACGGCAGCTCCATGTCCTTCTACGTGCGGCCC
AGCCCGGCCAAGCGTCGGCTGTCGACGCTCATCCTGCACGGCGGCGGCACCGTGTGCCGAGTGCAGGAGCCCGGGGCCGTGCTGCTGGCCCAGCCCGGGGAGGCG
CTGGCCGAGGCCTCGGGTGATTTCATCTCCACGCAGTACATCCTGGACTGCGTGGAGCGCAACGAGAGGCTGGAGCTGGAGGCCTATCGGCTGGGCCCCGCCTCG
GCGGCGGACACCGGCTCGGAAGCAAAGCCCGGGGCCCTGGCCGAGGGCGCCGCGGAGCCGGAGCCGCAGCGGCACGCCGGGCGGATCGCCTTCACGGATGCGGAC
GACGTAGCCATCCTTACCTACGTGAAGGAAAATGCCCGCTCGCCCAGCTCCGTCACCGGTAACGCCTTGTGGAAAGCGATGGAGAAGAGCTCGCTCACGCAGCAC
TCGTGGCAGTCCCTGAAGGACCGCTACCTCAAGCACCTGCGGGGCCAGGAGCATAAGTACCTGCTGGGGGACGCGCCGGTGAGCCCCTCCTCCCAGAAGCTCAAG
CGGAAGGCGGAGGAGGACCCGGAGGCCGCGGATAGCGGGGAACCACAGAATAAGAGAACTCCAGATTTGCCTGAAGAAGAGTATGTGAAGGAAGAAATCCAGGAG
AATGAAGAAGCAGTCAAAAAGATGCTTGTGGAAGCCACCCGGGAGTTTGAGGAGGTTGTGGTGGATGAGAGCCCTCCTGATTTTGAAATACATATAACTATGTGT
GATGATGATCCACCCACACCTGAGGAAGACTCAGAAACACAGCCTGATGAGGAGGAAGAAGAAGAAGAAGAAAAAGTTTCTCAACCAGAGGTGGGAGCTGCCATT
AAGATCATTCGGCAGTTAATGGAGAAGTTTAACTTGGATCTATCAACAGTTACACAGGCCTTCCTAAAAAATAGTGGTGAGCTGGAGGCTACTTCCGCCTTCTTA
GCGTCTGGTCAGAGAGCTGATGGATATCCCATTTGGTCCCGACAAGATGACATAGATTTGCAAAAAGATGATGAGGATACCAGAGAGGCATTGGTCAAAAAATTT
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>TERF2IP|54386|protein
MAEAMDLGKDPNGPTHSSTLFVRDDGSSMSFYVRPSPAKRRLSTLILHGGGTVCRVQEPGAVLLAQPGEALAEASGDFISTQYILDCVERNERLELEAYRLGPAS
AADTGSEAKPGALAEGAAEPEPQRHAGRIAFTDADDVAILTYVKENARSPSSVTGNALWKAMEKSSLTQHSWQSLKDRYLKHLRGQEHKYLLGDAPVSPSSQKLK
RKAEEDPEAADSGEPQNKRTPDLPEEEYVKEEIQENEEAVKKMLVEATREFEEVVVDESPPDFEIHITMCDDDPPTPEEDSETQPDEEEEEEEEKVSQPEVGAAI
KIIRQLMEKFNLDLSTVTQAFLKNSGELEATSAFLASGQRADGYPIWSRQDDIDLQKDDEDTREALVKKFGAQNVARRIEFRKK

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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