HSPE1-MOB4

HSPE1-MOB4 readthrough

Basic information

Region (hg38): 2:197500413-197550726

Links

ENSG00000270757 ∙ NCBI:100529241 ∙ ∙ HGNC:49184 ∙ ∙ ∙ 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 HSPE1-MOB4 gene.

• not provided (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPE1-MOB4 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	2	0	0

Variants in HSPE1-MOB4

This is a list of pathogenic ClinVar variants found in the HSPE1-MOB4 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-197501180-C-G		HSPE1-related condition	Uncertain significance (Sep 13, 2024)
2-197503079-A-C		not specified	Uncertain significance (Feb 08, 2023)
2-197503087-C-T			Uncertain significance (Jul 24, 2019)
2-197503117-C-A		not specified	Uncertain significance (May 29, 2024)
2-197503228-A-T		not specified	Uncertain significance (Feb 12, 2024)
2-197516109-C-T		not specified	Uncertain significance (Oct 13, 2023)
2-197540370-C-T		not specified	Uncertain significance (Oct 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSPE1-MOB4	protein_coding	protein_coding	ENST00000604458	9	50314

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.971	0.0291	125739	0	2	125741	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.77	42	131	0.320	0.00000604	1726
Missense in Polyphen		1	42.695	0.023422		572
Synonymous	-0.201	44	42.3	1.04	0.00000190	466
Loss of Function	3.39	1	15.3	0.0652	6.51e-7	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.380

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Gene ontology

• Biological process: protein folding
• Cellular component: cytoplasm
• Molecular function: ATP binding