MAHAC

Summary

MAHAC (maintenance of histone H4K5 acetylation associated lncRNA, HGNC:54387) is a long non-coding RNA gene on chromosome 9p24.1.

At a glance

• Clinical variants (ClinVar): 1 total

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:54387
Approved symbol	MAHAC
Name	maintenance of histone H4K5 acetylation associated lncRNA
Location	9p24.1
Locus type	RNA, long non-coding
Status	Approved
Ensembl gene	ENSG00000229611
Entrez	105375968
RNAcentral	URS00026A1B56 — lncRNA, 500 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 0

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

None — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 104 present calls, max score 96.03.

Top tissues by expression

104 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.03	gold quality
left testis	UBERON:0004533	68.18	gold quality
testis	UBERON:0000473	67.58	gold quality
right testis	UBERON:0004534	67.09	gold quality
gall bladder	UBERON:0002110	60.47	gold quality
lymph node	UBERON:0000029	58.81	gold quality
hindlimb stylopod muscle	UBERON:0004252	58.48	gold quality
sural nerve	UBERON:0015488	58.29	silver quality
prefrontal cortex	UBERON:0000451	57.02	gold quality
islet of Langerhans	UBERON:0000006	56.90	gold quality
vermiform appendix	UBERON:0001154	56.73	gold quality
duodenum	UBERON:0002114	56.26	gold quality
monocyte	CL:0000576	54.56	gold quality
bone marrow	UBERON:0002371	54.17	gold quality
blood	UBERON:0000178	53.93	gold quality
liver	UBERON:0002107	53.80	gold quality
superior frontal gyrus	UBERON:0002661	53.69	gold quality
right lobe of liver	UBERON:0001114	52.90	gold quality
placenta	UBERON:0001987	52.64	gold quality
substantia nigra	UBERON:0002038	52.01	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	51.84	gold quality
tonsil	UBERON:0002372	50.77	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	50.76	gold quality
muscle of leg	UBERON:0001383	49.50	gold quality
primary visual cortex	UBERON:0002436	49.24	silver quality
putamen	UBERON:0001874	48.95	gold quality
gastrocnemius	UBERON:0001388	48.93	gold quality
body of pancreas	UBERON:0001150	48.52	gold quality
multicellular organism	UBERON:0000468	48.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	48.39	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.64

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Canonical reviewed UniProt: None (reviewed: )

All UniProt accessions (0):

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 9 (showing top): ZNF350_TARGET_GENES, ZNF610_TARGET_GENES, ZSCAN30_TARGET_GENES, HAY_BONE_MARROW_PLASMA_CELL, DESCARTES_FETAL_LIVER_HEPATOBLASTS, ZSCAN5DP_TARGET_GENES, ZBED5_TARGET_GENES, ZNF680_TARGET_GENES, chr9p24

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

1 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

313 predictions. Top by Δscore:

Variant	Effect	Δscore
9:6644612:A:AC	donor_gain	1.0000
9:6644613:C:CC	donor_gain	1.0000
9:6644613:CAAA:C	donor_gain	1.0000
9:6644625:T:TA	donor_gain	1.0000
9:6645239:CCTTA:C	donor_loss	1.0000
9:6645240:CTTA:C	donor_loss	1.0000
9:6645241:TTAC:T	donor_loss	1.0000
9:6645242:TA:T	donor_loss	1.0000
9:6645243:A:AC	donor_gain	1.0000
9:6645243:ACCG:A	donor_gain	1.0000
9:6645244:C:CC	donor_gain	1.0000
9:6645244:CCG:C	donor_gain	1.0000
9:6645244:CCGC:C	donor_gain	1.0000
9:6720995:CAGGT:C	donor_loss	1.0000
9:6720996:AGGTG:A	donor_loss	1.0000
9:6720997:GGTG:G	donor_loss	1.0000
9:6720998:G:C	donor_loss	1.0000
9:6644611:TACAA:T	donor_gain	0.9900
9:6644612:ACAAA:A	donor_gain	0.9900
9:6644613:CAA:C	donor_gain	0.9900
9:6644613:CAAAC:C	donor_gain	0.9900
9:6644689:TGCT:T	acceptor_gain	0.9900
9:6644691:CT:C	acceptor_gain	0.9900
9:6720994:GCAG:G	donor_gain	0.9900
9:6720998:G:GG	donor_gain	0.9900
9:6644613:CA:C	donor_gain	0.9800
9:6644691:CTCTA:C	acceptor_loss	0.9800
9:6644692:TCTAA:T	acceptor_loss	0.9800
9:6644693:C:CC	acceptor_gain	0.9800
9:6644694:T:C	acceptor_loss	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000013881 (9:6706773 C>T), RS1000311650 (9:6705671 G>A), RS1000521930 (9:6703458 T>C), RS1000618262 (9:6702473 C>T), RS1000678706 (9:6705967 T>C), RS1000999080 (9:6703274 C>T), RS1001413824 (9:6707253 A>C), RS1001668332 (9:6702766 G>A), RS1002685397 (9:6703125 T>C), RS1002790709 (9:6707590 G>A), RS1003663184 (9:6704861 G>A,C), RS1004225340 (9:6706193 G>A), RS1004466373 (9:6706249 C>T), RS1004487782 (9:6707658 T>G), RS1004733291 (9:6703178 T>A,C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 0 entries

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.