AutismKB 2.0

Evidence Details for TP53BP1


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Basic Information Top
Gene Symbol:TP53BP1 ( 53BP1,FLJ41424,MGC138366,p202 )
Gene Full Name: tumor protein p53 binding protein 1
Band: 15q15.3
Quick LinksEntrez ID:7158; OMIM: 605230; Uniprot ID:TP53B_HUMAN; ENSEMBL ID: ENSG00000067369; HGNC ID: 11999
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TP53BP1|7158|nucleotide
ATGCCTGGGGAGCAGATGGACCCTACTGGAAGTCAGTTGGATTCAGATTTCTCTCAGCAAGATACTCCTTGCCTGATAATTGAAGATTCTCAGCCTGAAAGCCAG
GTTCTAGAGGATGATTCTGGTTCTCACTTCAGTATGCTATCTCGACACCTTCCTAATCTCCAGACGCACAAAGAAAATCCTGTGTTGGATGTTGTGTCCAATCCT
GAACAAACAGCTGGAGAAGAACGAGGAGACGGTAATAGTGGGTTCAATGAACATTTGAAAGAAAACAAGGTTGCAGACCCTGTGGATTCTTCTAACTTGGACACA
TGTGGTTCCATCAGTCAGGTCATTGAGCAGTTACCTCAGCCAAACAGGACAAGCAGTGTTCTGGGAATGTCAGTGGAATCTGCTCCTGCTGTGGAGGAAGAGAAG
GGAGAAGAGTTGGAACAGAAGGAGAAAGAGAAGGAAGAAGATACTTCAGGCAATACTACACATTCCCTTGGTGCTGAAGATACTGCCTCATCACAGTTGGGTTTT
GGGGTTCTGGAACTCTCCCAGAGCCAGGATGTTGAGGAAAATACTGTGCCATATGAAGTGGACAAAGAGCAGCTACAATCAGTAACCACCAACTCTGGTTATACC
AGGCTGTCTGATGTGGATGCTAATACTGCAATTAAGCATGAAGAACAGTCCAACGAAGATATCCCCATAGCAGAACAGTCCAGCAAGGACATCCCTGTGACAGCA
CAGCCCAGTAAGGATGTACATGTTGTAAAAGAGCAAAATCCACCACCTGCAAGGTCAGAGGACATGCCTTTTAGCCCCAAAGCATCTGTTGCTGCTATGGAAGCA
AAAGAACAGTTGTCTGCACAAGAACTTATGGAAAGTGGACTGCAGATTCAGAAGTCACCAGAGCCTGAGGTTTTGTCAACTCAGGAAGACTTGTTTGACCAGAGC
AATAAAACAGTATCTTCTGATGGTTGCTCTACTCCTTCAAGGGAGGAAGGTGGGTGTTCTTTGGCTTCCACTCCTGCCACCACTCTGCATCTCCTGCAGCTCTCT
GGTCAGAGGTCCCTTGTTCAGGACAGTCTTTCCACGAATTCTTCAGATCTTGTTGCTCCTTCTCCTGATGCTTTCCGATCTACTCCTTTTATCGTTCCTAGCAGT
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>TP53BP1|7158|protein
MPGEQMDPTGSQLDSDFSQQDTPCLIIEDSQPESQVLEDDSGSHFSMLSRHLPNLQTHKENPVLDVVSNPEQTAGEERGDGNSGFNEHLKENKVADPVDSSNLDT
CGSISQVIEQLPQPNRTSSVLGMSVESAPAVEEEKGEELEQKEKEKEEDTSGNTTHSLGAEDTASSQLGFGVLELSQSQDVEENTVPYEVDKEQLQSVTTNSGYT
RLSDVDANTAIKHEEQSNEDIPIAEQSSKDIPVTAQPSKDVHVVKEQNPPPARSEDMPFSPKASVAAMEAKEQLSAQELMESGLQIQKSPEPEVLSTQEDLFDQS
NKTVSSDGCSTPSREEGGCSLASTPATTLHLLQLSGQRSLVQDSLSTNSSDLVAPSPDAFRSTPFIVPSSPTEQEGRQDKPMDTSVLSEEGGEPFQKKLQSGEPV
ELENPPLLPESTVSPQASTPISQSTPVFPPGSLPIPSQPQFSHDIFIPSPSLEEQSNDGKKDGDMHSSSLTVECSKTSEIEPKNSPEDLGLSLTGDSCKLMLSTS
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top