NANOGP8

Nanog homeobox retrogene P8, the group of NKL subclass homeoboxes and pseudogenes

Basic information

Region (hg38): 15:35083410-35085295

Links

ENSG00000255192

∙ NCBI:388112 ∙ ∙ HGNC:23106 ∙ Uniprot:Q6NSW7 ∙ 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 NANOGP8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NANOGP8 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 clinvar		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in NANOGP8

This is a list of pathogenic ClinVar variants found in the NANOGP8 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-35084199-G-A			Likely benign (Dec 01, 2022)	2645151
15-35084921-C-A		Keratoconus	Uncertain significance (Apr 01, 2023)	2498244

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: May act as a transcription regulator (By similarity). When overexpressed, promotes entry of cells into S phase and cell proliferation. {ECO:0000250, ECO:0000269|PubMed:16623708}.;

Recessive Scores

pRec: 0.342

Gene ontology

Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;positive regulation of cell population proliferation;positive regulation of cell cycle G1/S phase transition
Cellular component: nucleus
Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;molecular_function;DNA-binding transcription factor activity;sequence-specific DNA binding