HSPB7

heat shock protein family B (small) member 7, the group of Small heat shock proteins

Basic information

Region (hg38): 1:16014028-16019594

Links

ENSG00000173641 ∙ NCBI:27129 ∙ OMIM:610692 ∙ HGNC:5249 ∙ Uniprot:Q9UBY9 ∙ 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 HSPB7 gene.

• not_specified (35 variants)
• not_provided (3 variants)
• Oromandibular-limb_hypogenesis_spectrum (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPB7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014424.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			35	1	2	38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	1	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSPB7	protein_coding	protein_coding	ENST00000311890	3	5567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0163	0.721	125721	0	14	125735	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.428	108	121	0.891	0.00000836	1095
Missense in Polyphen		26	30.129	0.86295		274
Synonymous	-1.12	65	54.5	1.19	0.00000417	363
Loss of Function	0.708	3	4.65	0.646	2.82e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000207	0.000206
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000626	0.0000615
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Differentiation of white and brown adipocyte (Consensus)

Recessive Scores

• pRec: 0.150

Intolerance Scores

• loftool: 0.168
• rvis_EVS: -0.18
• rvis_percentile_EVS: 39.95

Haploinsufficiency Scores

• pHI: 0.161
• hipred: N
• hipred_score: 0.383
• ghis: 0.581

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.700

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hspb7
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: hspb7
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: curved ventral

Gene ontology

• Biological process: response to unfolded protein;heart development;regulation of heart contraction
• Cellular component: nucleus;nucleoplasm;cytoplasm;Cajal body;actin cytoskeleton;aggresome
• Molecular function: protein binding;protein C-terminus binding;filamin binding