AutismKB 2.0

Evidence Details for HBS1L


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Basic Information Top
Gene Symbol:HBS1L ( DKFZp686L13262,EF-1a,ERFS,HBS1,HSPC276 )
Gene Full Name: HBS1-like (S. cerevisiae)
Band: 6q23.3
Quick LinksEntrez ID:10767; OMIM: 612450; Uniprot ID:HBS1L_HUMAN; ENSEMBL ID: ENSG00000112339; HGNC ID: 4834
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HBS1L|10767|nucleotide
ATGGCCCGGCATCGGAATGTTCGAGGCTATAACTACGATGAAGATTTTGAAGATGATGATCTCTACGGCCAGTCTGTAGAGGATGATTATTGTATTTCGCCGTCA
ACAGCTCGTCTTTATTCATGCCTTGATCACATGAGAGAGGTACTTGGAGATGCTGTGCCAGATGAAATATTAATTGAAGCAGTTCTGAAGAACAAGTTTGATGTG
CAGAAGGCTTTGTCAGGGGTTCTGGAACAAGATAGAGTGCAGAGTTTGAAGGACAAGAATGAGGCAACAGTATCTACAGGAAAGATAGCAAAAGGAAAACCAGTA
GATTCCCAGACATCGCGAAGTGAATCTGAAATTGTGCCAAAAGTTGCTAAAATGACTGTATCTGGAAAGAAGCAAACTATGGGATTTGAAGTGCCTGGAGTATCT
TCTGAAGAAAATGGTCATAGTTTCCACACACCTCAAAAAGGACCGCCCATTGAAGATGCCATTGCTTCTTCCGATGTTCTTGAGACTGCTTCTAAATCTGCTAAT
CCACCCCACACGATTCAAGCATCAGAAGAGCAGAGTTCAACCCCAGCACCGGTGAAAAAGTCTGGCAAGCTGAGGCAGCAAATAGATGTGAAGGCGGAACTGGAG
AAGCGGCAAGGAGGGAAGCAGCTACTCAACTTAGTGGTCATTGGTCATGTTGATGCTGGGAAAAGTACTCTGATGGGCCATATGCTTTATCTTCTGGGTAATATA
AACAAAAGAACTATGCATAAGTATGAACAGGAGTCTAAAAAGGCTGGCAAAGCTTCGTTTGCATATGCATGGGTCTTGGATGAAACTGGCGAAGAAAGGGAAAGG
GGAGTAACCATGGATGTTGGTATGACAAAGTTTGAAACCACAACCAAAGTTATTACATTAATGGATGCTCCAGGCCATAAGGACTTCATTCCAAATATGATTACA
GGAGCAGCCCAGGCGGATGTAGCTGTTTTAGTTGTAGATGCCAGCAGGGGAGAGTTTGAAGCTGGATTTGAGACTGGAGGACAAACACGAGAGCATGGACTCTTG
GTCCGTTCTCTGGGAGTGACGCAGCTTGCAGTTGCAGTTAATAAAATGGATCAGGTTAATTGGCAACAAGAAAGGTTTCAAGAGATTACTGGAAAACTTGGGCAC
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>HBS1L|10767|protein
MARHRNVRGYNYDEDFEDDDLYGQSVEDDYCISPSTARLYSCLDHMREVLGDAVPDEILIEAVLKNKFDVQKALSGVLEQDRVQSLKDKNEATVSTGKIAKGKPV
DSQTSRSESEIVPKVAKMTVSGKKQTMGFEVPGVSSEENGHSFHTPQKGPPIEDAIASSDVLETASKSANPPHTIQASEEQSSTPAPVKKSGKLRQQIDVKAELE
KRQGGKQLLNLVVIGHVDAGKSTLMGHMLYLLGNINKRTMHKYEQESKKAGKASFAYAWVLDETGEERERGVTMDVGMTKFETTTKVITLMDAPGHKDFIPNMIT
GAAQADVAVLVVDASRGEFEAGFETGGQTREHGLLVRSLGVTQLAVAVNKMDQVNWQQERFQEITGKLGHFLKQAGFKESDVGFIPTSGLSGENLITRSQSSELT
KWYKGLCLLEQIDSFKPPQRSIDKPFRLCVSDVFKDQGSGFCITGKIEAGYIQTGDRLLAMPPNETCTVKGITLHDEPVDWAAAGDHVSLTLVGMDIIKINVGCI
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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 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top