AutismKB 2.0

Evidence Details for HEBP2


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Basic Information Top
Gene Symbol:HEBP2 ( C6ORF34B,C6orf34,KIAA1244,PP23,SOUL )
Gene Full Name: heme binding protein 2
Band: 6q24.1
Quick LinksEntrez ID:23593; OMIM: 605825; Uniprot ID:HEBP2_HUMAN; ENSEMBL ID: ENSG00000051620; HGNC ID: 15716
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HEBP2|23593|nucleotide
ATGGCCGAGCCGCTCCAGCCAGACCCCGGGGCGGCCGAGGACGCGGCGGCCCAAGCTGTGGAGACGCCGGGCTGGAAGGCCCCGGAGGACGCCGGCCCCCAGCCC
GGAAGTTATGAGATCCGACACTATGGACCAGCCAAGTGGGTCAGCACGTCCGTGGAGTCTATGGACTGGGATTCAGCCATCCAGACGGGCTTTACGAAACTGAAC
AGCTACATTCAAGGCAAAAACGAGAAAGAGATGAAAATAAAGATGACAGCTCCAGTGACAAGCTACGTGGAGCCTGGTTCAGGTCCTTTTAGTGAGTCTACCATT
ACCATTTCCCTGTATATTCCCTCTGAACAGCAATTTGATCCACCCAGGCCTTTAGAGTCAGATGTCTTCATTGAAGATAGAGCCGAAATGACTGTGTTTGTACGG
TCTTTCGATGGATTTTCTAGTGCCCAAAAGAATCAAGAACAACTTTTGACATTAGCAAGCATTTTAAGGGAAGATGGAAAAGTTTTCGATGAGAAGGTTTACTAC
ACTGCAGGCTACAACAGTCCTGTCAAATTGCTTAATAGAAATAATGAAGTGTGGTTGATTCAAAAAAATGAACCCACCAAAGAAAACGAATGA





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>HEBP2|23593|protein
MAEPLQPDPGAAEDAAAQAVETPGWKAPEDAGPQPGSYEIRHYGPAKWVSTSVESMDWDSAIQTGFTKLNSYIQGKNEKEMKIKMTAPVTSYVEPGSGPFSESTI
TISLYIPSEQQFDPPRPLESDVFIEDRAEMTVFVRSFDGFSSAQKNQEQLLTLASILREDGKVFDEKVYYTAGYNSPVKLLNRNNEVWLIQKNEPTKENE



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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top