ASDURF

Summary

ASDURF (ASNSD1 upstream open reading frame, HGNC:53619) is a protein-coding gene on chromosome 2q32, encoding ASNSD1 upstream open reading frame protein (L0R819). It is a selective cancer dependency (DepMap: 17.1% of cell lines).

Predicted to be involved in protein stabilization. Part of RPAP3/R2TP/prefoldin-like complex.

Source: NCBI Gene 110599588 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 10 total
• Cancer dependency (DepMap): dependent in 17.1% of screened cell lines
• MANE Select transcript: NM_001353493

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53619
Approved symbol	ASDURF
Name	ASNSD1 upstream open reading frame
Location	2q32
Locus type	gene with protein product
Status	Approved
Aliases	ASNSD1-SEP
Ensembl gene	ENSG00000286053
Ensembl biotype	protein_coding
OMIM	619740
Entrez	110599588

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 nonsense_mediated_decay

ENST00000605941, ENST00000607535, ENST00000607690, ENST00000607829

RefSeq mRNA: 2 — MANE Select: NM_001353493 NM_001353493, NM_001353494

CCDS: CCDS86901, CCDS86902

Canonical transcript exons

ENST00000607829 — 4 exons

Exon	Start	End
ENSE00003698947	189666041	189666401
ENSE00003847851	189665376	189665451
ENSE00003849942	189663901	189663954
ENSE00003903078	189661459	189661610

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 96.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.9803 / max 686.9537, expressed in 1801 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
24252	43.9803	1801

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	96.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.19	gold quality
corpus callosum	UBERON:0002336	83.22	gold quality
islet of Langerhans	UBERON:0000006	80.45	gold quality
gall bladder	UBERON:0002110	73.33	gold quality
adrenal tissue	UBERON:0018303	72.93	gold quality
smooth muscle tissue	UBERON:0001135	72.92	gold quality
endometrium	UBERON:0001295	70.14	gold quality
rectum	UBERON:0001052	69.86	gold quality
granulocyte	CL:0000094	69.31	gold quality
cortical plate	UBERON:0005343	68.78	gold quality
lymph node	UBERON:0000029	66.71	gold quality
ganglionic eminence	UBERON:0004023	65.99	gold quality
vermiform appendix	UBERON:0001154	65.98	gold quality
placenta	UBERON:0001987	64.98	gold quality
colonic epithelium	UBERON:0000397	64.69	gold quality
leukocyte	CL:0000738	64.07	gold quality
muscle of leg	UBERON:0001383	63.58	gold quality
monocyte	CL:0000576	63.16	gold quality
right adrenal gland cortex	UBERON:0035827	63.09	gold quality
gastrocnemius	UBERON:0001388	62.96	gold quality
bone marrow	UBERON:0002371	62.09	gold quality
pancreas	UBERON:0001264	61.71	gold quality
tonsil	UBERON:0002372	61.51	gold quality
prefrontal cortex	UBERON:0000451	61.13	gold quality
omental fat pad	UBERON:0010414	61.07	gold quality
muscle tissue	UBERON:0002385	60.84	gold quality
ovary	UBERON:0000992	60.80	gold quality
left ovary	UBERON:0002119	60.69	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.83

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 17.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 1)

• ASDURF is a beta prefoldin and a subunit of the prefoldin-like module of the PAQosome/R2TP-PFDL complex. (PMID:31738558)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Asdurf	ENSMUSG00000117809
rattus_norvegicus		ENSRNOG00000065791

Protein

Protein identifiers

ASNSD1 upstream open reading frame protein — L0R819 (reviewed: L0R819)

Alternative names: ASNSD1 small/short open reading frame-encoded polypeptide

All UniProt accessions (4): L0R819, U3KQ49, U3KQE3, U3KQP6

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the PAQosome complex which is responsible for the biogenesis of several protein complexes and which consists of R2TP complex members RUVBL1, RUVBL2, RPAP3 and PIH1D1, URI complex members PFDN2, PFDN6, PDRG1, UXT and URI1 as well as ASDURF, POLR2E and DNAAF10/WDR92.

Subcellular location. Cytoplasm.

Miscellaneous. Product of the upstream open reading frame of this bicistronic gene.

Isoforms (2)

UniProt ID	Names	Canonical?
L0R819-1	2, uORF	yes
Q9NWL6-1	1

RefSeq proteins (2): NP_001340422, NP_001340423 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009053	Prefoldin	Homologous_superfamily
IPR054148	ASNSD1-SEP	Family

Pfam: PF21975

UniProt features (4 total): chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-L0R819-F1	83.14	0.60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 4 (showing top): GOBP_PROTEIN_STABILIZATION, GOBP_REGULATION_OF_PROTEIN_STABILITY, chr2q32, GOCC_RPAP3_R2TP_PREFOLDIN_LIKE_COMPLEX

GO Biological Process (1): protein stabilization (GO:0050821)

GO Molecular Function (0):

GO Cellular Component (3): cytoplasm (GO:0005737), RPAP3/R2TP/prefoldin-like complex (GO:1990062), protein-containing complex (GO:0032991)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of protein stability	1
intracellular anatomical structure	1
cellular anatomical structure	1
protein-containing complex	1
cellular_component	1

Protein interactions and networks

STRING

134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASDURF	PDRG1	Q9NUG6	793
ASDURF	ASNSD1	Q9NWL6	779
ASDURF	PFDN6	O15212	764
ASDURF	UXT	Q9UBK9	735
ASDURF	Q9HB66	Q9HB66	720
ASDURF	PFDN2	Q9UHV9	718
ASDURF	URI1	O94763	640
ASDURF	MIEF1	L0R8F8	575
ASDURF	Q6ZT62	Q6ZT62	570
ASDURF	TZMP1	A0A1B0GUW7	559
ASDURF	DNAAF10	Q96MX6	545
ASDURF	PPP1R35	Q8TAP8	447
ASDURF	RPAP3	Q9H6T3	428
ASDURF	PIH1D1	Q9NWS0	410
ASDURF	MYMX	A0A1B0GTQ4	397

IntAct

17 interactions, top by confidence:

A	B	Type	Score
MED14	MED19	psi-mi:“MI:0914”(association)	0.790
FKBP5	IFT56	psi-mi:“MI:0914”(association)	0.350
PFDN6	ASDURF	psi-mi:“MI:0914”(association)	0.350
POLR1D	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2B	PALM3	psi-mi:“MI:0914”(association)	0.350
POLR2E	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2H	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2K	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR3B	BDP1	psi-mi:“MI:0914”(association)	0.350
PTGES3	KIFBP	psi-mi:“MI:0914”(association)	0.350
RPAP2	ASDURF	psi-mi:“MI:0914”(association)	0.350
RAB18	ASDURF	psi-mi:“MI:0914”(association)	0.350
RUVBL2	ASDURF	psi-mi:“MI:0914”(association)	0.350
RUVBL1	ASDURF	psi-mi:“MI:0914”(association)	0.350
NFYC	ASDURF	psi-mi:“MI:2364”(proximity)	0.270
FLT4	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

ESM2 similar proteins: A1A5R8, A3LU54, A7RNG8, E9QHE3, F1N5V1, F4HWE6, F4JTJ2, L0R819, O94763, P08638, P18106, P25558, P32913, P33981, P35761, P36168, P38187, P38830, P38853, P50090, P53253, Q04052, Q06001, Q06623, Q12513, Q3B7M7, Q4KLY4, Q4R945, Q5R4C9, Q5R9J5, Q5RFA9, Q5VX52, Q642A0, Q68FF0, Q6AY22, Q6BS08, Q6NSI8, Q803I4, Q8S3U9, Q8TFN2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ASDURF	“form complex”	“PAQosome co-chaperone complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
RNA Polymerase III Chain Elongation	5	158.6×	2e-09
RNA Polymerase III Transcription Initiation From Type 2 Promoter	6	126.9×	2e-10
RNA Polymerase III Transcription Termination	5	124.1×	5e-09
RNA Polymerase III Transcription Initiation From Type 1 Promoter	6	122.4×	2e-10
RNA Polymerase III Transcription Initiation From Type 3 Promoter	6	122.4×	2e-10
Telomere Maintenance	6	110.5×	4e-10
RNA Polymerase III Transcription Initiation	6	100.8×	5e-10
RNA Polymerase III Transcription	6	97.9×	5e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	5	23.5×	2e-04
protein stabilization	5	15.2×	9e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

437 predictions. Top by Δscore:

Variant	Effect	Δscore
2:189661606:GCAAG:G	donor_gain	1.0000
2:189661611:G:GG	donor_gain	1.0000
2:189661611:GT:G	donor_loss	1.0000
2:189661612:T:G	donor_loss	1.0000
2:189663789:G:GG	donor_gain	1.0000
2:189665450:GA:G	donor_gain	1.0000
2:189665452:G:GG	donor_gain	1.0000
2:189661596:GATC:G	donor_gain	0.9900
2:189661609:AG:A	donor_gain	0.9900
2:189661610:GG:G	donor_gain	0.9900
2:189663952:AGGGT:A	donor_loss	0.9900
2:189663953:GG:G	donor_gain	0.9900
2:189663954:GG:G	donor_gain	0.9900
2:189663954:GGT:G	donor_loss	0.9900
2:189663955:G:GT	donor_loss	0.9900
2:189663956:TGAG:T	donor_loss	0.9900
2:189663957:GAGT:G	donor_loss	0.9900
2:189665447:CAAGA:C	donor_gain	0.9900
2:189665448:AAGA:A	donor_gain	0.9900
2:189665449:AGA:A	donor_gain	0.9900
2:189665450:GAG:G	donor_gain	0.9900
2:189665451:AG:A	donor_loss	0.9900
2:189665454:AA:A	donor_loss	0.9900
2:189663898:TA:T	acceptor_loss	0.9800
2:189663899:A:AG	acceptor_gain	0.9800
2:189663899:AGA:A	acceptor_loss	0.9800
2:189663900:G:GG	acceptor_gain	0.9800
2:189663958:AGT:A	donor_loss	0.9800
2:189663959:G:C	donor_loss	0.9800
2:189665375:GAAA:G	acceptor_gain	0.9800

AlphaMissense

645 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:189663941:T:C	L44P	0.998
2:189665400:A:C	S57R	0.998
2:189665402:C:A	S57R	0.998
2:189665402:C:G	S57R	0.998
2:189665412:T:C	F61L	0.997
2:189665414:T:A	F61L	0.997
2:189665414:T:G	F61L	0.997
2:189663932:T:A	L41H	0.996
2:189663932:T:C	L41P	0.996
2:189663941:T:A	L44H	0.996
2:189665380:T:A	V50E	0.996
2:189665382:T:G	Y51D	0.996
2:189665401:G:T	S57I	0.996
2:189666056:T:C	L79P	0.996
2:189665413:T:C	F61S	0.995
2:189665407:T:A	I59K	0.994
2:189665450:G:C	K73N	0.993
2:189665450:G:T	K73N	0.993
2:189663911:A:C	Q34P	0.991
2:189663930:A:C	E40D	0.990
2:189663930:A:T	E40D	0.990
2:189663932:T:G	L41R	0.990
2:189665382:T:A	Y51N	0.990
2:189665383:A:C	Y51S	0.990
2:189665407:T:G	I59R	0.990
2:189663929:A:T	E40V	0.989
2:189665410:T:C	F60S	0.989
2:189665418:G:C	A63P	0.989
2:189663941:T:G	L44R	0.988
2:189663945:G:C	K45N	0.988

dbSNP variants (sampled 300 via entrez): RS1000015422 (2:189662949 A>C), RS1000087038 (2:189663243 T>A,C), RS1000529587 (2:189664746 C>A), RS1001810915 (2:189660762 A>G), RS1001933550 (2:189665925 T>C), RS1002074869 (2:189660462 G>A), RS1002091032 (2:189660663 G>A), RS1002571912 (2:189663347 G>A), RS1002603037 (2:189663195 C>G), RS1002960988 (2:189664970 T>C), RS1003314703 (2:189664685 G>A,T), RS1004276371 (2:189662009 T>G), RS1004419288 (2:189660754 C>T), RS1004579416 (2:189661360 A>C), RS1004917582 (2:189665264 C>G)

Disease associations

OMIM: gene MIM:619740 | 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: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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