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HOXB13 |
Gene Facts External Data Attribution
- HGNC Symbol
- HOXB13 (HGNC:5112) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- homeobox B13
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 39.86(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.27(Read more about gnomAD LOEUF score)
- Cytoband
- 17q21.32
- Genomic Coordinates
-
GRCh37/hg19: chr17:46802125-46806112 NCBI Ensembl UCSC GRCh38/hg38: chr17:48724763-48728750 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006361.6 ENST00000290295.8 (Read more about MANE Select)
- Function
- Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds preferentially to methylated DNA (PubMed:28473536). {ECO:0000269|PubMed:28473536}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5126
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000017.10)
(NC_000017.11)
