AutismKB 2.0

Evidence Details for HEATR7B1


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Basic Information Top
Gene Symbol:HEATR7B1 ( - )
Gene Full Name: HEAT repeat containing 7B1
Band: 2q37.1
Quick LinksEntrez ID:339766; OMIM: NA; Uniprot ID:; ENSEMBL ID: ENSG00000185038; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HEATR7B1|339766|nucleotide
ATGTGTATTGGGCCAAGAGCAGAGCTTTTTCTTGTGGTTAATATCTGTTTAATCCAGAAGAAGACCCTAAGGAAAGAGCTTGAGGAAGAGATGACTGAAGCCATT
ACAGAAGCAGCAGTAGACTCAAGTGAGGAGGTGTCAGAGGAAAGAGACGACCTGGGGCCTCTTGAATTACATGACAGTGGTACCTTTCAACAAGTCGTGAACCTT
CTGGACATCATTGACAGCGAGTCAGCAAAGACGGACACAACAGGGGCAGGCCTTGACATGCGGAAGACCCTGGCCTCGGTGATAATCATGGAGAAGGCCACCACT
GAGCCTTCTGTAGTGATAAACACTCTCATCCGCTGCCTGCAGGTGCCAGAGATTTCCACCCAGCGCAAGGTCAACATTTACAACATCCTCCAGGACATCATCCAG
CAGGAGGGGGAGCTGGAGGAGCAGTGCGTGCAGAGGCTGGTGGCCATTGCCTCCAAGGAGATGAGGGAGATCCCAGAGATGGAGGGCTATATGAAGGCAGAGGTG
GCCAGCGACACACTGGTGGCTCTGTCCCGAAACCACTTCAGCTTGGTCATGTACGAGCTGCAGCACCACCTCAAGCCCCTCAACCTCACTGATGAATTTGTCATC
ATCACACTGGCCAAGCTGGCCAACGGCAATGTGTTTGAGTTCATGCCATACATGGGCATCACCCTGGCTACCATATTCACCATGCTGAGACTTGCCAATGAAGCC
AAGATACGCCAGGCGATCTGCAGTGCCATGGAGACCTTCTGTGAGACGGTGCAGTTTTATCTGAAGCACCTGGAGGAGAGCGTGTACCCCGTGATGACTGAGGAG
GAGTTTGCCCTGAAGGTGTTCCCCATGTATCGCTACTTCGTGACAGTGTGGCTGAGGCACCACAACCCCGAGGTGAAGCTGGGGGTGATCAAGTCCCTGAAGCCC
ATGCTCGGCCTCCTTCTGCCCAACGATGACCTGCGGGAGCAGGTCTACGACTACATCCCCCTGCTGCTGGCGGAGTACCAGGGCAGTCTGGAGGCGCTCTTCGTC
ACGCAGGTCTTGAGGCAGATCCTGGGACTGTCAGTCACCACCAACACCCCTGTCCCCCAAATGCAGCTACACACCATTTTCACAGAACTGCACGTCCAGGTGTGC
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>HEATR7B1|339766|protein
MCIGPRAELFLVVNICLIQKKTLRKELEEEMTEAITEAAVDSSEEVSEERDDLGPLELHDSGTFQQVVNLLDIIDSESAKTDTTGAGLDMRKTLASVIIMEKATT
EPSVVINTLIRCLQVPEISTQRKVNIYNILQDIIQQEGELEEQCVQRLVAIASKEMREIPEMEGYMKAEVASDTLVALSRNHFSLVMYELQHHLKPLNLTDEFVI
ITLAKLANGNVFEFMPYMGITLATIFTMLRLANEAKIRQAICSAMETFCETVQFYLKHLEESVYPVMTEEEFALKVFPMYRYFVTVWLRHHNPEVKLGVIKSLKP
MLGLLLPNDDLREQVYDYIPLLLAEYQGSLEALFVTQVLRQILGLSVTTNTPVPQMQLHTIFTELHVQVCNKAPAQHQYSSQNLMEMVHCFVALARSYPKELMKF
FFSQMETNKEAVRVGTLNLIRAIVSADEPRMSIRAIYLAIRVVKNTISDTRSKVRMAILHIIGQLALCGYQERIKGWGLKYLSVQLTLSTYKLTNRREKFYQRDL
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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 (0) 0 (0) 0 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top