ASB13

Summary

ASB13 (ankyrin repeat and SOCS box containing 13, HGNC:19765) is a protein-coding gene on chromosome 10p15.1, encoding Ankyrin repeat and SOCS box protein 13 (Q8WXK3). May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and a SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants, both protein-coding and not protein-coding, have been described for this gene.

Source: NCBI Gene 79754 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 64 total
• GTEx eGene: eQTL in 34 tissues, sQTL in 11 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.69 (unconstrained)
• MANE Select transcript: NM_024701
• Notable: 64 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19765
Approved symbol	ASB13
Name	ankyrin repeat and SOCS box containing 13
Location	10p15.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13134, MGC19879
Ensembl gene	ENSG00000196372
Ensembl biotype	protein_coding
OMIM	615055
Entrez	79754

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 9 nonsense_mediated_decay, 8 protein_coding, 3 protein_coding_CDS_not_defined

MANE Select: ENST00000357700

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1, TSL 3: 2

ENST00000357700, ENST00000459912, ENST00000479033, ENST00000482921, ENST00000493897, ENST00000904595, ENST00000955064, ENST00000955065, ENST00000979364, ENST00000979365, ENST00001015216, ENST00001015218, ENST00001015220, ENST00001076887, ENST00001117980, ENST00001122603, ENST00001122604, ENST00001122605, ENST00001129997, ENST00001141518

RefSeq mRNA: 1 — MANE Select: NM_024701 NM_024701

CCDS: CCDS7070

Canonical transcript exons

ENST00000357700 — 6 exons

Exon	Start	End
ENSE00003426984	5651213	5651363
ENSE00003624803	5652863	5653050
ENSE00003657370	5648970	5649104
ENSE00003676099	5638867	5640830
ENSE00003690841	5641770	5641961
ENSE00003850147	5666509	5666595

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 96.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9745 / max 67.2934, expressed in 1601 samples.

Highest expression (Bgee): pigmented layer of retina, lobe of liver, nephron tubule, mucosa of transverse colon, lateral nuclear group of thalamus.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASB13 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 34 tissues and its splicing (sQTL) in 11 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 45 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Brain Cortex	sqtl	8.7e-19	-1.13	10:5664974:A:T
Adipose Subcutaneous	eqtl	2.1e-17	-0.31	10:5652203:G:A
Artery Aorta	eqtl	5.2e-16	-0.26	10:5632795:T:A
Nerve Tibial	eqtl	3.3e-15	-0.34	10:5652203:G:A
Brain Frontal Cortex BA9	eqtl	8.5e-14	+0.38	10:5664974:A:T
Brain Cortex	eqtl	8.2e-12	+0.32	10:5666114:G:T
Brain Cerebellar Hemisphere	sqtl	1.5e-10	-0.97	10:5664974:A:T
Brain Frontal Cortex BA9	sqtl	2.4e-10	-0.96	10:5666114:G:T
Testis	sqtl	3.8e-10	+0.59	10:5646832:A:G
Artery Tibial	eqtl	1.6e-09	-0.31	10:5639069:G:A
Cells Cultured fibroblasts	eqtl	1.2e-08	-0.32	10:5639069:G:A
Skin Sun Exposed Lower leg	eqtl	3.2e-07	-0.22	10:5652203:G:A
Brain Cerebellum	sqtl	4.9e-07	-0.87	10:5668901:C:A
Brain Spinal cord cervical c-1	eqtl	7.1e-07	+0.41	10:5611487:A:G
Heart Left Ventricle	eqtl	2.4e-06	-0.28	10:5666006:C:T
Brain Caudate basal ganglia	eqtl	4.2e-06	+0.47	10:5645150:C:T
Whole Blood	eqtl	6.9e-06	+0.12	10:5662742:A:AG
Esophagus Mucosa	eqtl	1.2e-05	+0.17	10:5662947:G:T
Thyroid	eqtl	1.3e-05	-0.17	10:5631565:G:A
Brain Cerebellum	eqtl	1.4e-05	+0.32	10:5659659:AC:A

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
108107	2.8710	1350
108108	2.0699	1209
205715	0.0336	10

Top tissues by expression

showing 100 of 283 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	96.15	gold quality
right lobe of liver	UBERON:0001114	94.17	gold quality
nephron tubule	UBERON:0001231	93.78	gold quality
mucosa of transverse colon	UBERON:0004991	92.92	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.32	gold quality
metanephros cortex	UBERON:0010533	91.43	gold quality
kidney epithelium	UBERON:0004819	91.13	gold quality
mucosa of stomach	UBERON:0001199	90.53	gold quality
primary visual cortex	UBERON:0002436	90.29	gold quality
adult mammalian kidney	UBERON:0000082	90.28	gold quality
liver	UBERON:0002107	90.23	gold quality
cortex of kidney	UBERON:0001225	90.00	gold quality
tibia	UBERON:0000979	89.96	gold quality
duodenum	UBERON:0002114	89.86	gold quality
left adrenal gland cortex	UBERON:0035825	89.75	gold quality
left adrenal gland	UBERON:0001234	89.69	gold quality
gingival epithelium	UBERON:0001949	89.68	gold quality
metanephric glomerulus	UBERON:0004736	89.61	gold quality
right adrenal gland cortex	UBERON:0035827	89.48	gold quality
right adrenal gland	UBERON:0001233	89.43	gold quality
adrenal cortex	UBERON:0001235	89.37	gold quality
metanephros	UBERON:0000081	89.15	gold quality
renal glomerulus	UBERON:0000074	88.99	gold quality
adrenal gland	UBERON:0002369	88.73	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.47	gold quality
kidney	UBERON:0002113	88.41	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.10	gold quality
right frontal lobe	UBERON:0002810	88.01	gold quality
occipital lobe	UBERON:0002021	87.89	gold quality
right hemisphere of cerebellum	UBERON:0014890	87.81	gold quality
cerebellar hemisphere	UBERON:0002245	87.78	gold quality
cerebellar cortex	UBERON:0002129	87.77	gold quality
prefrontal cortex	UBERON:0000451	87.73	gold quality
small intestine	UBERON:0002108	87.59	gold quality
renal medulla	UBERON:0000362	87.48	gold quality
cerebellum	UBERON:0002037	87.09	gold quality
lymph node	UBERON:0000029	87.02	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.01	gold quality
cervix squamous epithelium	UBERON:0006922	86.93	silver quality
middle temporal gyrus	UBERON:0002771	86.87	gold quality
transverse colon	UBERON:0001157	86.85	gold quality
pancreatic ductal cell	CL:0002079	86.37	gold quality
frontal cortex	UBERON:0001870	86.31	gold quality
anterior cingulate cortex	UBERON:0009835	86.25	gold quality
cingulate cortex	UBERON:0003027	86.21	gold quality
endothelial cell	CL:0000115	86.20	silver quality
neocortex	UBERON:0001950	86.19	gold quality
apex of heart	UBERON:0002098	86.13	gold quality
squamous epithelium	UBERON:0006914	86.06	gold quality
descending thoracic aorta	UBERON:0002345	85.92	gold quality
left coronary artery	UBERON:0001626	85.85	gold quality
epithelium of esophagus	UBERON:0001976	85.83	gold quality
esophagus squamous epithelium	UBERON:0006920	85.73	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	85.69	gold quality
gingiva	UBERON:0001828	85.68	gold quality
coronary artery	UBERON:0001621	85.37	gold quality
epithelium of nasopharynx	UBERON:0001951	85.34	silver quality
jejunal mucosa	UBERON:0000399	85.08	gold quality
right uterine tube	UBERON:0001302	85.08	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.00	gold quality
cerebral cortex	UBERON:0000956	84.94	gold quality
visceral pleura	UBERON:0002401	84.88	gold quality
amygdala	UBERON:0001876	84.83	gold quality
intestine	UBERON:0000160	84.75	gold quality
ileal mucosa	UBERON:0000331	84.65	gold quality
putamen	UBERON:0001874	84.64	gold quality
left uterine tube	UBERON:0001303	84.61	gold quality
right ovary	UBERON:0002118	84.60	gold quality
pleura	UBERON:0000977	84.53	gold quality
adult organism	UBERON:0007023	84.43	gold quality
parietal pleura	UBERON:0002400	84.41	gold quality
gastrocnemius	UBERON:0001388	84.40	gold quality
skin of leg	UBERON:0001511	84.39	gold quality
colon	UBERON:0001155	84.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	84.29	gold quality
cerebellar vermis	UBERON:0004720	84.27	gold quality
thoracic aorta	UBERON:0001515	84.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	84.12	gold quality
telencephalon	UBERON:0001893	84.10	gold quality
aorta	UBERON:0000947	84.09	gold quality
large intestine	UBERON:0000059	84.07	gold quality
lower esophagus muscularis layer	UBERON:0035833	84.06	gold quality
lower esophagus	UBERON:0013473	84.05	gold quality
brain	UBERON:0000955	84.02	gold quality
muscle of leg	UBERON:0001383	84.02	gold quality
rectum	UBERON:0001052	84.01	gold quality
ascending aorta	UBERON:0001496	84.01	gold quality
popliteal artery	UBERON:0002250	84.01	gold quality
tibial artery	UBERON:0007610	84.00	gold quality
corpus epididymis	UBERON:0004359	83.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.88	gold quality
forebrain	UBERON:0001890	83.87	gold quality
left ovary	UBERON:0002119	83.69	gold quality
skin of hip	UBERON:0001554	83.60	gold quality
spinal cord	UBERON:0002240	83.50	gold quality
adrenal tissue	UBERON:0018303	83.49	gold quality
endocervix	UBERON:0000458	83.41	gold quality
caput epididymis	UBERON:0004358	83.41	gold quality
hypothalamus	UBERON:0001898	83.39	gold quality
substantia nigra	UBERON:0002038	83.35	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.16

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 78 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Cerebral cortex	tissue	37.6	low
Somatosensory cortex	tissue	37.6
Occipital cortex	tissue	36.9
Superior colliculi	tissue	26.2
Temporal cortex	tissue	24.7
Hippocampal formation	tissue	24.1
Entorhinal cortex	tissue	24.1
Duodenum	tissue	24.0	medium
Motor cortex	tissue	23.9
Small intestine	tissue	23.9	medium
Retrosplenial and cingulate cortex	tissue	23.0
Frontal cortex	tissue	22.8
Thalamus	tissue	22.1
Prefrontal cortex	tissue	21.5
Retrosplenial cortex	tissue	20.1
Kidney	tissue	19.9	medium
Insular cortex	tissue	19.9
Liver	tissue	19.7	not detected
Pons	tissue	18.4
Cerebellum	tissue	17.8	medium
Midbrain	tissue	17.6
Choroid plexus	tissue	17.5
Medulla oblongata	tissue	17.2
Postcentral gyrus	tissue	17.2
Lymph node	tissue	17.0	medium
Ventral forebrain	tissue	15.4
Olfactory bulb	tissue	15.2
Amygdala	tissue	15.1
Caudate putamen	tissue	14.8
Putamen	tissue	14.5
Ovary	tissue	14.0	low
Basal ganglia	tissue	13.9	low
Septum	tissue	13.7
Locus coeruleus	tissue	13.5
Hypothalamus	tissue	13.3
Substantia nigra	tissue	13.1
Periaqueductal gray	tissue	12.4
Tonsil	tissue	12.1	medium
Fallopian tube	tissue	12.0	medium
Hippocampus	tissue	11.9	not detected
Adrenal gland	tissue	11.8	not detected
Colon	tissue	11.5	medium
Spinal cord	tissue	11.4
Nucleus accumbens	tissue	11.0
Skeletal muscle	tissue	10.5	low
Breast	tissue	9.7	medium
Tongue	tissue	9.4
Pancreas	tissue	9.2	low
Vagina	tissue	8.6	medium
Heart muscle	tissue	8.4	low
Pituitary gland	tissue	8.0
Spleen	tissue	7.9	low
Adipose tissue	tissue	7.8	low
Esophagus	tissue	7.8	medium
Stomach 1	tissue	7.7	medium
Urinary bladder	tissue	7.2	medium
Gallbladder	tissue	7.2	medium
Skin 1	tissue	6.8	low
Appendix	tissue	6.8	medium
Cervix	tissue	6.7	medium

Brain sub-regions (HPA Brain Atlas): detected in 191; highest nTPM — Ventral posterolateral thalamic nucleus (23.7), Lateral geniculate body (23.5), Ventral hippocampus (22.5), Pulvinar (22.3), Centromedial thalamic nucleus (20.9).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ASB13 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 68 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4472	99.56	66.08	1478
HSA-MIR-3120-3P	99.54	70.28	2669

Functional genomics

gnomAD constraint: pLI 4.43e-14, LOEUF 1.69, missense Z -0.779 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000357700 — one region, missense o/e 1.06.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb13a.2	ENSDARG00000045765
danio_rerio	asb13a.1	ENSDARG00000079698
danio_rerio	asb13b	ENSDARG00000089833
mus_musculus	Asb13	ENSMUSG00000033781
rattus_norvegicus	Asb13	ENSRNOG00000017967

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5RFS1	99.4%	Diamond
Oryctolagus cuniculus	Q862Z2	94.8%	Diamond
Bos taurus	Q17QS6	92.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
TRV-TAC3-1	tRNA	100189342
GDI2	protein-coding	2665
TASOR2	protein-coding	54906
LASTR	ncRNA	105376382
LINC02678	ncRNA	105376383
LINC02677	ncRNA	102723629
ANKRD16	protein-coding	54522

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 13 — Q8WXK3 (reviewed: Q8WXK3)

All UniProt accessions (1): Q8WXK3

UniProt curated annotations — full annotation on UniProt →

Function. May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8WXK3-1	1	yes
Q8WXK3-2	2

RefSeq proteins (1): NP_078977* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR037334	ASB13_SOCS	Domain
IPR051573	Ankyrin-SOCS_box_domain	Family

Pfam: PF07525, PF12796, PF13637

UniProt features (12 total): repeat 6, sequence conflict 2, splice variant 2, chain 1, domain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WXK3-F1	91.60	0.85

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): golgi apparatus; nucleoplasm

Antibody reliability (HPA): IH approved · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

2 curated (TAS) of 7; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

7 pathways:

ID	Pathway	Evidence
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation	curated
R-HSA-8951664	Neddylation	curated
R-HSA-1280218	Adaptive Immune System	—
R-HSA-983169	Class I MHC mediated antigen processing & presentation	—
R-HSA-168256	Immune System	—
R-HSA-392499	Metabolism of proteins	—
R-HSA-597592	Post-translational protein modification	—

MSigDB gene sets: 161 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, MODULE_169, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, FOSTER_TOLERANT_MACROPHAGE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, chr10p15, PARENT_MTOR_SIGNALING_UP, GRYDER_PAX3FOXO1_TOP_ENHANCERS, RIGGINS_TAMOXIFEN_RESISTANCE_UP, MODULE_456, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION

GO Biological Process (2): protein ubiquitination (GO:0016567), intracellular signal transduction (GO:0035556)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): cytosol (GO:0005829)

Reactome top-level categories

5 top-level categories:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

6 GO namespaces:

Category	Terms
protein modification by small protein conjugation	1
intracellular anatomical structure	1
signal transduction	1
binding	1
cytoplasm	1
cellular anatomical structure	1

Protein interactions and networks

STRING

showing 15 of 666 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB13	LRRC41	Q15345	455
ASB13	PSMG4	Q5JS54	439
ASB13	KLHL42	Q9P2K6	436
ASB13	PSMG2	Q969U7	432
ASB13	TASOR2	Q5VWN6	403
ASB13	DNPEP	Q9ULA0	394
ASB13	WDR55	Q9H6Y2	390
ASB13	RSPO4	Q2I0M5	387
ASB13	PCDHGB4	Q9UN71	379
ASB13	SERPINA9	Q86WD7	377
ASB13	ASB6	Q9NWX5	368
ASB13	PSME3	P61289	366
ASB13	UFL1	O94874	366
ASB13	UBE2J1	Q9Y385	366
ASB13	XPNPEP3	Q9NQH7	365

IntAct

Human interaction partners of ASB13 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

19 partners by confidence:

Partner	Interaction type	MIscore	Records
VAC14	physical association	0.670	6
HIF1AN	association	0.660	2
ATXN1	physical association	0.560	6
DMWD	physical association	0.560	3
KLF11	physical association	0.560	3
PANK2	physical association	0.560	3
PRKN	physical association	0.560	3
RNF11	physical association	0.560	3
SNCA	physical association	0.560	3
SPRED1	physical association	0.560	3
TARDBP	physical association	0.560	3
VHL	physical association	0.560	3
ZMIZ2	physical association	0.560	3
NUDT3	physical association	0.550	2
MARK3	physical association	0.510	2
DUSP23	physical association	0.370	1
TRIP13	physical association	0.370	1
NPRL3	association	0.350	1
DNM1	physical association	0.000	1

BioGRID (47 interactions; top human partners by supporting records): CUL5 (Affinity Capture-MS; 6 records), HIF1AN (Two-hybrid; 3 records), VAC14 (Two-hybrid; 3 records), NUDT3 (Two-hybrid; 2 records), RNF7 (Affinity Capture-MS; 2 records), TCEB2 (Affinity Capture-MS; 2 records), TRIP13 (Two-hybrid; 2 records), AMBRA1 (Affinity Capture-MS), ASB9 (Two-hybrid), CCT8 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), DDX58 (Affinity Capture-RNA), DNM1 (Two-hybrid), DUSP23 (Two-hybrid), HAPLN2 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for ASB13: 64 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	0
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 475):

Position(s)	Effect	Δscore	Sites
10:5641768–5641769	donor_loss	1.0000	5
10:5641772	donor_gain	1.0000
10:5651211–5651212	donor_loss	1.0000	5
10:5651361	acceptor_gain	1.0000
10:5651364	acceptor_loss	1.0000
10:5651369	acceptor_gain	1.0000
10:5652861–5652862	donor_loss	1.0000	5
10:5653051–5653052	acceptor_loss	1.0000	5
10:5640831–5640832	acceptor_loss	0.9900	6
10:5641768	donor_loss	0.9900

AlphaMissense

850 missense substitutions predicted likely pathogenic (of 1,806 scored), across 204 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
D147	8	0.986	0.996
H57	8	0.982	0.991
D212	8	0.981	0.998
H122	8	0.976	0.990
D84	8	0.973	0.993
H187	8	0.971	0.988
H155	8	0.965	0.990
D91	8	0.961	0.990
D51	8	0.958	0.989
N82	8	0.952	0.998
S86	8	0.899	0.995
H188	8	0.875	0.974
H24	8	0.871	0.961
E123	7	0.967	0.979
C90	7	0.958	0.996
F150	7	0.946	0.991
F204	7	0.940	0.994
E183	7	0.937	0.980
D79	7	0.933	0.981
C125	7	0.912	0.999

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	9.69e-09
Glioblastoma Multiforme (validation)	favorable	2.2e-05
Rectum Adenocarcinoma (TCGA)	favorable	0.000649

Disease associations

OMIM: gene MIM:615055 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST007269_186	Pulse pressure	2e-8
GCST012046_5	Fasting insulin	3e-7
GCST009856_28	Leukocyte telomere length	1e-6
GCST002337_65	Amyotrophic lateral sclerosis (sporadic)	3e-6

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	2
Estradiol	affects binding, increases expression	2
Cyclosporine	decreases expression	2
Aflatoxin B1	decreases expression	2
testosterone enanthate	affects expression	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	decreases expression	1
aflatoxin B2	increases methylation	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	decreases expression, affects binding	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Bilirubin	decreases expression	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tamoxifen	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.