BLMH

bleomycin hydrolase, the group of Peptidase family C1

Basic information

Region (hg38): 17:30248202-30292056

Links

ENSG00000108578 ∙ NCBI:642 ∙ OMIM:602403 ∙ HGNC:1059 ∙ Uniprot:Q13867 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BLMH gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLMH gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in BLMH

This is a list of pathogenic ClinVar variants found in the BLMH region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-30249058-T-C		BLEOMYCIN HYDROLASE POLYMORPHISM	Benign (May 28, 1996)
17-30249067-C-T		not specified	Uncertain significance (Dec 06, 2021)
17-30249088-C-T		not specified	Uncertain significance (Sep 14, 2023)
17-30271330-G-C		not specified	Uncertain significance (Jul 29, 2023)
17-30272591-T-C		not specified	Uncertain significance (Mar 06, 2023)
17-30272591-T-G		not specified	Uncertain significance (Jun 29, 2023)
17-30272595-A-C		not specified	Uncertain significance (Apr 14, 2022)
17-30272760-G-A		not specified	Uncertain significance (Mar 29, 2022)
17-30272787-A-G		not specified	Uncertain significance (Oct 04, 2022)
17-30272857-T-C		not specified	Uncertain significance (Dec 16, 2023)
17-30272859-T-C		not specified	Uncertain significance (Jan 09, 2024)
17-30274154-G-A		not specified	Uncertain significance (Aug 09, 2021)
17-30285438-C-T		not specified	Uncertain significance (Feb 28, 2023)
17-30287919-G-C		not specified	Uncertain significance (Jun 23, 2023)
17-30287922-C-T		not specified	Likely benign (May 09, 2023)
17-30289479-C-T		not specified	Uncertain significance (May 23, 2023)
17-30291332-T-C		not specified	Likely benign (May 18, 2023)
17-30291395-G-A		not specified	Uncertain significance (Mar 22, 2022)
17-30291479-T-A		not specified	Uncertain significance (Mar 31, 2022)
17-30291499-G-A		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLMH	protein_coding	protein_coding	ENST00000261714	12	43857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.129	0.871	125675	1	72	125748	0.000290

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.63	172	244	0.706	0.0000113	3041
Missense in Polyphen		49	95.602	0.51254		1196
Synonymous	0.0687	89	89.8	0.991	0.00000442	796
Loss of Function	3.60	7	27.3	0.256	0.00000148	315

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000771	0.000771
Ashkenazi Jewish	0.000204	0.000198
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000396	0.000396
Middle Eastern	0.000109	0.000109
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B- aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity. {ECO:0000250}.

Recessive Scores

• pRec: 0.387

Intolerance Scores

• loftool: 0.722
• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.74

Haploinsufficiency Scores

• pHI: 0.535
• hipred: Y
• hipred_score: 0.756
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.622

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Blmh
• Phenotype: homeostasis/metabolism phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; limbs/digits/tail phenotype; immune system phenotype

Gene ontology

• Biological process: protein polyubiquitination;proteolysis;response to toxic substance;response to drug;homocysteine catabolic process
• Cellular component: nucleus;cytoplasm;cytosol;extracellular exosome
• Molecular function: aminopeptidase activity;carboxypeptidase activity;cysteine-type endopeptidase activity;protein binding;cysteine-type peptidase activity;identical protein binding