CEMIP

cell migration inducing hyaluronidase 1, the group of Hyaluronidases

Basic information

Region (hg38): 15:80779342-80951776

Previous symbols: [ "KIAA1199" ]

Links

ENSG00000103888 ∙ NCBI:57214 ∙ OMIM:608366 ∙ HGNC:29213 ∙ Uniprot:Q8WUJ3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• nonsyndromic genetic hearing loss (Disputed Evidence), mode of inheritance: AR

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEMIP 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				10	13	23
missense			73	10	2	85
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region				3	1	4
non coding					40	40
Total	0	0	73	20	56

Variants in CEMIP

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

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

Position	Type	Phenotype	Significance	ClinVar
15-80873899-A-G		not specified	Uncertain significance (May 14, 2024)
15-80873910-T-C		not specified	Uncertain significance (Feb 15, 2023)
15-80873955-C-T		not specified	Uncertain significance (Sep 30, 2021)
15-80873959-G-A		not specified	Uncertain significance (Mar 01, 2023)
15-80873970-A-G		not specified	Uncertain significance (Jul 12, 2023)
15-80874051-G-C			Benign (May 10, 2021)
15-80874141-G-A			Benign (Nov 10, 2018)
15-80878590-G-A			Benign (May 21, 2021)
15-80878724-C-T		not specified	Uncertain significance (Sep 14, 2022)
15-80878772-G-A		not specified	Uncertain significance (May 06, 2024)
15-80878777-G-A		not specified	Uncertain significance (Jan 24, 2024)
15-80878875-A-G		CEMIP-related disorder	Likely benign (Apr 03, 2019)
15-80879449-G-C			Benign (Nov 10, 2018)
15-80879572-A-G			Benign (May 24, 2021)
15-80879707-C-T		not specified	Benign (Jul 09, 2020)
15-80879723-G-A		CEMIP-related disorder	Benign (May 05, 2021)
15-80879795-G-A		CEMIP-related disorder	Likely benign (Jul 12, 2019)
15-80880627-A-G			Benign (Jun 19, 2021)
15-80880637-C-T			Benign (Nov 10, 2018)
15-80880917-A-G		not specified	Uncertain significance (Jan 22, 2024)
15-80880928-T-C		not specified	Uncertain significance (Apr 19, 2023)
15-80880950-G-C		not specified	Uncertain significance (Jan 20, 2023)
15-80880968-C-T			Uncertain significance (Feb 11, 2019)
15-80880993-G-A			Benign (Dec 31, 2019)
15-80881024-C-T		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEMIP	protein_coding	protein_coding	ENST00000394685	28	172434

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.40e-17	1.00	125654	0	94	125748	0.000374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.66	648	778	0.833	0.0000493	9033
Missense in Polyphen		240	334.64	0.71718		3779
Synonymous	-0.762	328	311	1.05	0.0000224	2560
Loss of Function	3.41	38	68.4	0.556	0.00000371	785

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000568	0.000568
Ashkenazi Jewish	0.00129	0.00129
East Asian	0.000979	0.000979
Finnish	0.000280	0.000277
European (Non-Finnish)	0.000326	0.000325
Middle Eastern	0.000979	0.000979
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a process that may occur through rapid vesicle endocytosis and recycling without intracytoplasmic accumulation or digestion in lysosomes. Involved in hyaluronan catabolism in the dermis of the skin and arthritic synovium. Positively regulates epithelial- mesenchymal transition (EMT), and hence tumor cell growth, invasion and cancer dissemination. In collaboration with HSPA5/BIP, promotes cancer cell migration in a calcium and PKC- dependent manner. May be involved in hearing. {ECO:0000269|PubMed:23509262, ECO:0000269|PubMed:23990668, ECO:0000269|PubMed:24269685}.
• Pathway: Hyaluronan biosynthesis and export;Hyaluronan metabolism;Metabolism of carbohydrates;Glycosaminoglycan metabolism;Metabolism (Consensus)

Recessive Scores

• pRec: 0.147

Intolerance Scores

• rvis_EVS: -1.05
• rvis_percentile_EVS: 7.63

Haploinsufficiency Scores

• pHI: 0.122
• hipred: Y
• hipred_score: 0.639
• ghis: 0.410

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Cemip
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: sensory perception of sound;positive regulation of peptidyl-threonine phosphorylation;hyaluronan biosynthetic process;hyaluronan catabolic process;positive regulation of cell migration;positive regulation of release of sequestered calcium ion into cytosol;positive regulation of protein targeting to membrane;positive regulation of protein kinase C activity
• Cellular component: extracellular region;nucleus;cytoplasm;endoplasmic reticulum;plasma membrane;clathrin-coated pit;clathrin-coated vesicle membrane;clathrin-coated endocytic vesicle
• Molecular function: hyalurononglucosaminidase activity;protein binding;hyaluronic acid binding;clathrin heavy chain binding;ER retention sequence binding