UNCX

UNC homeobox, the group of PRD class homeoboxes and pseudogenes

Basic information

Region (hg38): 7:1232872-1237326

Links

ENSG00000164853 ∙ NCBI:340260 ∙ ∙ HGNC:33194 ∙ Uniprot:A6NJT0 ∙ 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 UNCX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UNCX 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			42	4		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	4	0

Variants in UNCX

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

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

Position	Type	Phenotype	Significance	ClinVar
7-1233026-C-A		not specified	Uncertain significance (Sep 16, 2021)
7-1233120-G-A		not specified	Uncertain significance (Jan 17, 2023)
7-1233243-C-T		not specified	Uncertain significance (Jun 05, 2023)
7-1233256-G-A		not specified	Uncertain significance (Jun 16, 2023)
7-1233264-G-A		not specified	Uncertain significance (Oct 25, 2022)
7-1233270-G-A		not specified	Likely benign (Dec 13, 2023)
7-1233274-A-C		not specified	Uncertain significance (Sep 01, 2021)
7-1233543-A-G		not specified	Uncertain significance (Aug 08, 2022)
7-1233544-G-C		not specified	Uncertain significance (Dec 14, 2023)
7-1233678-G-A		not specified	Uncertain significance (Jun 10, 2024)
7-1235981-G-T		not specified	Uncertain significance (Dec 20, 2021)
7-1235991-A-C		not specified	Uncertain significance (Oct 12, 2022)
7-1236000-C-T		not specified	Uncertain significance (Nov 27, 2023)
7-1236009-A-C		not specified	Uncertain significance (May 13, 2022)
7-1236027-G-A		not specified	Likely benign (Apr 07, 2023)
7-1236058-C-T		not specified	Uncertain significance (Jan 10, 2022)
7-1236077-C-A		not specified	Uncertain significance (Aug 23, 2021)
7-1236093-G-A		not specified	Uncertain significance (Jan 10, 2023)
7-1236121-C-T		not specified	Uncertain significance (Jul 12, 2023)
7-1236154-G-A		not specified	Uncertain significance (May 09, 2023)
7-1236180-A-C		not specified	Uncertain significance (Jul 09, 2021)
7-1236186-C-T		not specified	Uncertain significance (Feb 22, 2023)
7-1236216-G-C		not specified	Uncertain significance (Jul 21, 2021)
7-1236228-C-G		not specified	Uncertain significance (Jul 20, 2021)
7-1236243-A-G		not specified	Uncertain significance (May 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UNCX	protein_coding	protein_coding	ENST00000316333	3	4412

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.634	0.360	119065	0	1	119066	0.00000420

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.726	117	141	0.828	0.00000659	3282
Missense in Polyphen		11	46.304	0.23756		530
Synonymous	-1.71	85	67.2	1.27	0.00000342	1210
Loss of Function	2.19	1	7.47	0.134	3.24e-7	125

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000934	0.00000934
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor involved in somitogenesis and neurogenesis. Required for the maintenance and differentiation of particular elements of the axial skeleton. May act upstream of PAX9. Plays a role in controlling the development of connections of hypothalamic neurons to pituitary elements, allowing central neurons to reach the peripheral blood circulation and to deliver hormones for control of peripheral functions (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• pHI: 0.139

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.579

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uncx
• Phenotype: 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); 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); skeleton phenotype; growth/size/body region phenotype

Gene ontology

• Biological process: cartilage condensation;regulation of transcription by RNA polymerase II;pattern specification process;dorsal spinal cord development;olfactory bulb interneuron differentiation;common myeloid progenitor cell proliferation;regulation of cell differentiation
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;sequence-specific DNA binding