CD37

CD37 molecule, the group of Tetraspanins|CD molecules

Basic information

Region (hg38): 19:49335171-49343335

Links

ENSG00000104894 ∙ NCBI:951 ∙ OMIM:151523 ∙ HGNC:1666 ∙ Uniprot:P11049 ∙ 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 CD37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD37 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					1	1
missense			6	1	1	8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	6	1	2

Variants in CD37

This is a list of pathogenic ClinVar variants found in the CD37 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49335774-G-A		not specified	Uncertain significance (May 14, 2024)
19-49335776-G-C			Benign (Mar 29, 2018)
19-49336939-C-A		not specified	Uncertain significance (Feb 01, 2023)
19-49337178-C-T		not specified	Uncertain significance (Apr 24, 2024)
19-49337946-G-A			Benign (Mar 29, 2018)
19-49337949-G-T		not specified	Uncertain significance (Oct 17, 2023)
19-49338760-A-G		not specified	Uncertain significance (Jan 31, 2022)
19-49338890-G-A		not specified	Likely benign (Jan 23, 2023)
19-49339323-C-T			Benign (Dec 28, 2017)
19-49339343-G-A		not specified	Uncertain significance (May 10, 2024)
19-49339385-G-T		not specified	Uncertain significance (Aug 30, 2021)
19-49340307-C-A		not specified	Uncertain significance (May 27, 2022)
19-49340323-C-T		not specified	Uncertain significance (Nov 21, 2023)
19-49342464-C-T		not specified	Uncertain significance (Jul 25, 2023)
19-49342506-G-T		not specified	Uncertain significance (Dec 13, 2023)
19-49342527-C-T		not specified	Uncertain significance (Apr 27, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD37	protein_coding	protein_coding	ENST00000323906	8	8165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000439	0.852	125716	0	32	125748	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.723	144	171	0.844	0.0000102	1815
Missense in Polyphen		43	55.45	0.77547		706
Synonymous	-0.0914	76	75.0	1.01	0.00000472	558
Loss of Function	1.44	11	17.5	0.629	8.91e-7	170

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000264	0.000264
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

• Pathway: Hematopoietic cell lineage - Homo sapiens (human);TYROBP Causal Network (Consensus)

Recessive Scores

• pRec: 0.164

Intolerance Scores

• loftool: 0.480
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.93

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.392
• ghis: 0.592

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd37
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: cell surface receptor signaling pathway
• Cellular component: immunological synapse;integral component of plasma membrane;membrane;extracellular exosome
• Molecular function: protein binding