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GeneBe

BLMH

bleomycin hydrolase, the group of Peptidase family C1

Basic information

Region (hg38): 17:30248202-30292056

Links

ENSG00000108578NCBI:642OMIM:602403HGNC:1059Uniprot:Q13867AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (17 variants)

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
15
clinvar
2
clinvar
17
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 15 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)7248
17-30249067-C-T not specified Uncertain significance (Dec 06, 2021)2265168
17-30249088-C-T not specified Uncertain significance (Sep 14, 2023)2596905
17-30271330-G-C not specified Uncertain significance (Jul 29, 2023)2610464
17-30272591-T-C not specified Uncertain significance (Mar 06, 2023)2472531
17-30272591-T-G not specified Uncertain significance (Jun 29, 2023)2608728
17-30272595-A-C not specified Uncertain significance (Apr 14, 2022)2371948
17-30272760-G-A not specified Uncertain significance (Mar 29, 2022)2379208
17-30272787-A-G not specified Uncertain significance (Oct 04, 2022)2384646
17-30272857-T-C not specified Uncertain significance (Dec 16, 2023)3134129
17-30272859-T-C not specified Uncertain significance (Jan 09, 2024)3134128
17-30274154-G-A not specified Uncertain significance (Aug 09, 2021)2406210
17-30285438-C-T not specified Uncertain significance (Feb 28, 2023)2490215
17-30287919-G-C not specified Uncertain significance (Jun 23, 2023)2606024
17-30287922-C-T not specified Likely benign (May 09, 2023)2545779
17-30289479-C-T not specified Uncertain significance (May 23, 2023)2550399
17-30291332-T-C not specified Likely benign (May 18, 2023)2550048
17-30291395-G-A not specified Uncertain significance (Mar 22, 2022)2273608
17-30291479-T-A not specified Uncertain significance (Mar 31, 2022)2412022
17-30291499-G-A not specified Uncertain significance (May 27, 2022)2292478

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BLMHprotein_codingprotein_codingENST00000261714 1243857
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1290.8711256751721257480.000290
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.631722440.7060.00001133041
Missense in Polyphen4995.6020.512541196
Synonymous0.06878989.80.9910.00000442796
Loss of Function3.60727.30.2560.00000148315

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007710.000771
Ashkenazi Jewish0.0002040.000198
East Asian0.0001090.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.0003960.000396
Middle Eastern0.0001090.000109
South Asian0.00009800.0000980
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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