ING5

inhibitor of growth family member 5, the group of PHD finger proteins

Basic information

Region (hg38): 2:241687085-241729478

Links

ENSG00000168395 ∙ NCBI:84289 ∙ OMIM:608525 ∙ HGNC:19421 ∙ Uniprot:Q8WYH8 ∙ 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 ING5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ING5 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	1

Variants in ING5

This is a list of pathogenic ClinVar variants found in the ING5 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-241702073-C-T		not specified	Uncertain significance (Dec 19, 2022)
2-241702078-A-C		not specified	Uncertain significance (Jun 29, 2023)
2-241702078-A-T		not specified	Uncertain significance (Sep 20, 2023)
2-241709217-T-G		not specified	Uncertain significance (Jun 10, 2024)
2-241709287-C-T		not specified	Uncertain significance (Oct 12, 2021)
2-241709288-G-A		not specified	Uncertain significance (Apr 13, 2022)
2-241709290-G-A		not specified	Uncertain significance (Jan 10, 2022)
2-241709346-C-T			Benign (Mar 29, 2018)
2-241709358-G-T		not specified	Uncertain significance (Aug 12, 2024)
2-241711402-A-C		not specified	Uncertain significance (Feb 08, 2025)
2-241711416-C-T		not specified	Uncertain significance (Feb 12, 2025)
2-241711480-G-T		not specified	Uncertain significance (Feb 11, 2022)
2-241711997-A-T		not specified	Uncertain significance (Aug 12, 2024)
2-241722967-G-A		not specified	Uncertain significance (Jun 09, 2022)
2-241723016-C-T		not specified	Uncertain significance (Jul 05, 2024)
2-241723249-A-T		not specified	Uncertain significance (Feb 28, 2024)
2-241725026-A-G		not specified	Uncertain significance (Jan 24, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ING5	protein_coding	protein_coding	ENST00000313552	8	27444

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.619	0.381	125742	0	6	125748	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.92	72	135	0.535	0.00000828	1584
Missense in Polyphen		18	52.426	0.34334		582
Synonymous	-0.239	56	53.8	1.04	0.00000364	423
Loss of Function	3.02	3	16.1	0.187	0.00000108	167

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000578	0.0000578
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000269	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator (PubMed:12750254, PubMed:16387653). Inhibits cell growth, induces a delay in S-phase progression and enhances Fas-induced apoptosis in an INCA1-dependent manner (PubMed:21750715). {ECO:0000269|PubMed:12750254, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:21750715}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;Chromatin modifying enzymes;HATs acetylate histones;Chromatin organization;Regulation of TP53 Activity through Acetylation;Regulation of TP53 Activity;Transcriptional Regulation by TP53 (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.144
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.46

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.714
• ghis: 0.629

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.988

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ing5

Gene ontology

• Biological process: DNA replication;protein acetylation;negative regulation of cell population proliferation;positive regulation of apoptotic process;histone H3 acetylation;positive regulation of transcription, DNA-templated;negative regulation of growth;regulation of signal transduction by p53 class mediator;positive regulation of apoptotic signaling pathway
• Cellular component: nucleus;nucleoplasm;MOZ/MORF histone acetyltransferase complex
• Molecular function: chromatin binding;protein binding;methylated histone binding;metal ion binding