CD34

CD34 molecule, the group of CD molecules

Basic information

Region (hg38): 1:207880971-207911402

Links

ENSG00000174059 ∙ NCBI:947 ∙ OMIM:142230 ∙ HGNC:1662 ∙ Uniprot:P28906 ∙ 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 CD34 gene.

• Inborn genetic diseases (16 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD34 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	2		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 CD34

This is a list of pathogenic ClinVar variants found in the CD34 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-207887761-C-G		not specified	Uncertain significance (Sep 22, 2023)
1-207887802-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-207887810-G-T		not specified	Uncertain significance (Aug 30, 2022)
1-207887868-G-T		not specified	Uncertain significance (Nov 18, 2023)
1-207887922-C-T		not specified	Uncertain significance (Jan 03, 2022)
1-207888696-T-A		not specified	Uncertain significance (Jan 22, 2024)
1-207888710-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-207888713-C-T		not specified	Uncertain significance (Mar 29, 2022)
1-207889175-A-G		not specified	Uncertain significance (Jul 17, 2023)
1-207889189-A-C		not specified	Uncertain significance (Jun 07, 2023)
1-207889554-G-A		not specified	Uncertain significance (Aug 31, 2022)
1-207889565-C-G		not specified	Uncertain significance (Jun 06, 2022)
1-207899011-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-207899084-C-A		not specified	Uncertain significance (Dec 01, 2022)
1-207899110-C-T			Likely benign (Aug 16, 2018)
1-207899825-G-C		not specified	Uncertain significance (Jan 27, 2022)
1-207899829-T-C		not specified	Uncertain significance (Jun 22, 2023)
1-207899844-T-C		not specified	Likely benign (Oct 06, 2023)
1-207899877-C-T		not specified	Uncertain significance (Oct 14, 2023)
1-207899944-C-G		not specified	Uncertain significance (Aug 08, 2023)
1-207899974-C-T		not specified	Likely benign (Oct 20, 2021)
1-207911029-T-G		not specified	Uncertain significance (Aug 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD34	protein_coding	protein_coding	ENST00000310833	8	27154

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000499	0.870	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.773	175	206	0.849	0.0000103	2433
Missense in Polyphen		92	85.334	1.0781		962
Synonymous	0.454	82	87.4	0.938	0.00000479	819
Loss of Function	1.49	11	17.8	0.619	9.30e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000449	0.000448
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins.
• Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;C-MYB transcription factor network (Consensus)

Recessive Scores

• pRec: 0.879

Intolerance Scores

• loftool: 0.894
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

• pHI: 0.0422
• hipred: N
• hipred_score: 0.179
• ghis: 0.464

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.105

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd34
• Phenotype: immune system phenotype; hematopoietic system phenotype; neoplasm; homeostasis/metabolism phenotype; cellular phenotype; 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)

Gene ontology

• Biological process: tissue homeostasis;endothelial cell proliferation;glomerular filtration;endothelium development;signal transduction;regulation of blood pressure;cell population proliferation;positive regulation of gene expression;negative regulation of gene expression;hemopoiesis;negative regulation of blood coagulation;negative regulation of tumor necrosis factor production;positive regulation of interleukin-10 production;mesangial cell-matrix adhesion;paracrine signaling;positive regulation of odontogenesis;negative regulation of nitric oxide biosynthetic process;positive regulation of angiogenesis;cell motility;regulation of immune response;leukocyte migration;transdifferentiation;vascular wound healing;hematopoietic stem cell proliferation;positive regulation of transforming growth factor beta production;positive regulation of granulocyte colony-stimulating factor production;extracellular exosome assembly;glomerular endothelium development;stem cell proliferation;metanephric glomerular mesangial cell differentiation;cell-cell adhesion;negative regulation of cellular response to heat;negative regulation of cellular response to hypoxia;negative regulation of interleukin-2 secretion;positive regulation of glial cell-derived neurotrophic factor secretion;negative regulation of neuron death;positive regulation of vasculogenesis
• Cellular component: cytoplasm;lysosome;plasma membrane;integral component of plasma membrane;external side of plasma membrane;basal plasma membrane;apical plasma membrane;glomerular endothelium fenestra;intercellular bridge;perinuclear region of cytoplasm
• Molecular function: transcription factor binding;carbohydrate binding;sulfate binding