HINFP

Chr 11

histone H4 transcription factor

Also known as: HiNF-P, MIZF, ZNF743

NCBI Gene: 25988 ENSG00000172273 UniProt: Q9BQA5 OMIM: 607099

This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.51LOEUF

pLI 0.037

Z-score 3.51

OE 0.28 (0.17–0.51)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.68Z-score

OE missense 0.73 (0.65–0.81)

223 obs / 305.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.28 (0.17–0.51)

0≤0.351.4

Missense OE?0.73 (0.65–0.81)

0≤0.61.4

Synonymous OE?1.17

0≤1.21.6

LoF obs/exp: 8 / 28.1Missense obs/exp: 223 / 305.6Syn Z: -1.44

Background carrier burden — how many people carry a rare variant somewhere in HINFP?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

580 rare PASS variants

Rare truncating (LoF)

1 in 3,600

76 rare PASS variants

Rare synonymous (reference)

1 in 140

257 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for HINFP. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 160	1 in 3,700
South Asian	~43k	1 in 98	1 in 3,100
Remaining (unassigned)	~30k	1 in 120	≈ 1 in 7,500
European (Finnish)	~27k	1 in 1,100	≈ 1 in 8,900
Admixed American	~22k	1 in 110	1 in 3,700
African / African American	~21k	1 in 61	1 in 2,500
East Asian	~20k	1 in 95	1 in 1,200
Ashkenazi Jewish	~13k	1 in 480	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 180	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓