AutismKB 2.0

Evidence Details for HEATR5B


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Basic Information Top
Gene Symbol:HEATR5B ( KIAA1414 )
Gene Full Name: HEAT repeat containing 5B
Band: 2p22.2
Quick LinksEntrez ID:54497; OMIM: NA; Uniprot ID:HTR5B_HUMAN; ENSEMBL ID: ENSG00000008869; HGNC ID: 29273
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HEATR5B|54497|nucleotide
ATGGAGTTAGCCCACAGTTTATTGCTAAATGAAGAAGCTTTGGCTCAAATCACCGAAGCAAAAAGACCAGTTTTCATCTTTGAATGGTTGCGATTTCTTGATAAA
GTCTTGGTTGCTGCCAACAAGACCGATGTAAAGGAAAAACAGAAAAAACTTGTTGAACAATTAACTGGATTAATAAGTAGTTCACCTGGACCACCTACACGAAAA
TTATTAGCTAAAAATCTCGCAGCCCTTTATAGCATTGGGGATACTTTTACAGTTTTTCAGACACTTGATAAATGCAATGACATTATCAGAAATAAAGATGACACT
GCGGCCTACTTACCAACAAAATTGGCTGCGGTGGCTTGTGTCGGAGCATTTTATGAAAAAATGGGGAGAATGTTGGGCAGCGCATTTCCAGAAACGGTAAATAAT
CTATTGAAATCTCTGAAAAGTGCAGAGTCTCAAGGGCGAAGTGAAATCTTAATGAGTCTACAGAAAGTTCTAAGTGGACTGGGTGGTGCAGCAGCTTCCTCCCAT
CGTGATATTTACAAGAATGCCAGGTCTCTCTTGACTGATAGGTCAATGGCTGTTCGATGTGCAGTGGCCAAGTGTCTACTAGAACTACAGAATGAAGCTGTATTT
ATGTGGACTGCTGAACTAGAAAATATAGCCACTCTCTGCTTTAAGGCTTTGGAAAACTCAAATTATGGGGTACGAGTGGCAGTGTCTAAACTTTTAGGAACAGTC
ATGGCCACAGCATTAATGCCAAAACAGGCAACAGTAATGCGTCAGAATGTGAAGCGAGCAACATTTGATGAAGTCTTAGAACTCATGGCCACAGGATTTCTGCGT
GGAGGGTCAGGTTTCTTAAAGAGCGGTGGAGAAATGTTAAAAGTTGGAGGGTCCGTTAATCGTGAAGTGAGAGTTGGAGTTACGCAGGCGTATGTTGTTTTTGTG
ACAACATTGGGTGGTCAGTGGTTGGAGCGCAGCTTTGCCACGTTCCTGTCCCATGTACTTGATCTGGTTTCCCATCCTCGGGCAACACAAACACATGTGGAGGCT
GTGTACTCCAGACGATGTGTTTCCTTTATCCTAAGAGCTACTGTGGGCAGTTTGCTAGGTGAAAAAGCCCAGATTGCAGCTGCCAAAGAAATCTGCCAAGCTATT
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>HEATR5B|54497|protein
MELAHSLLLNEEALAQITEAKRPVFIFEWLRFLDKVLVAANKTDVKEKQKKLVEQLTGLISSSPGPPTRKLLAKNLAALYSIGDTFTVFQTLDKCNDIIRNKDDT
AAYLPTKLAAVACVGAFYEKMGRMLGSAFPETVNNLLKSLKSAESQGRSEILMSLQKVLSGLGGAAASSHRDIYKNARSLLTDRSMAVRCAVAKCLLELQNEAVF
MWTAELENIATLCFKALENSNYGVRVAVSKLLGTVMATALMPKQATVMRQNVKRATFDEVLELMATGFLRGGSGFLKSGGEMLKVGGSVNREVRVGVTQAYVVFV
TTLGGQWLERSFATFLSHVLDLVSHPRATQTHVEAVYSRRCVSFILRATVGSLLGEKAQIAAAKEICQAIGKQMKAVEAVVNDTSGENKSGAADIAASQHVMVCA
LQELGSLVQSLNATASPLIQEASIGLLEIVTSVLLHPSMAARLAAAWCLRCVAVALPFQLTPFLDRCAERLNNLKTSPEAVSGYSFAMAALLGGVHQCPLGIPHA
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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