HMGB1P1

high mobility group box 1 pseudogene 1

Basic information

Region (hg38): 20:57487959-57495366

Previous symbols: [ "HMG1L1", "HMGB1L1" ]

Links

ENSG00000124097

∙ NCBI:10357 ∙ ∙ HGNC:4993 ∙ Uniprot:B2RPK0 ∙ 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 HMGB1P1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HMGB1P1 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						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	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Binds preferentially single-stranded DNA and unwinds double-stranded DNA. {ECO:0000250}.;

Haploinsufficiency Scores

pHI: 0.240
hipred
hipred_score
ghis

Gene ontology

Biological process: activation of innate immune response;DNA recombination;chromatin remodeling;regulation of transcription by RNA polymerase II;regulation of signaling receptor activity;positive regulation of autophagy;developmental process;positive regulation of interleukin-6 production;positive regulation of tumor necrosis factor production;positive regulation of innate immune response;positive regulation of transcription by RNA polymerase II;positive regulation of interleukin-1 secretion;positive regulation of interleukin-1 beta secretion;cell chemotaxis;positive regulation of ERK1 and ERK2 cascade;positive regulation of NIK/NF-kappaB signaling;positive regulation of interferon-alpha secretion
Cellular component: nuclear chromatin;cytoplasm
Molecular function: transcription factor binding;DNA binding, bending