ASB6

Summary

ASB6 (ankyrin repeat and SOCS box containing 6, HGNC:17181) is a protein-coding gene on chromosome 9q34.11, encoding Ankyrin repeat and SOCS box protein 6 (Q9NWX5). Probable 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 belongs to a family of ankyrin repeat proteins that, along with four other protein families, contain a C-terminal SOCS box motif. Growing evidence suggests that the SOCS box, similar to the F-box, acts as a bridge between specific substrate-binding domains and the more generic proteins that comprise a large family of E3 ubiquitin protein ligases. Alternatively spliced transcript variants have been identified for this gene.

Source: NCBI Gene 140459 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 103 total — 2 pathogenic
• GTEx eGene: eQTL in 8 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.23 (unconstrained)
• MANE Select transcript: NM_017873
• Notable: 103 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17181
Approved symbol	ASB6
Name	ankyrin repeat and SOCS box containing 6
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000148331
Ensembl biotype	protein_coding
OMIM	615051
Entrez	140459

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 3 nonsense_mediated_decay

MANE Select: ENST00000277458

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

ENST00000277458, ENST00000277459, ENST00000450050, ENST00000936076, ENST00001079383, ENST00001117043, ENST00001117044, ENST00001122924, ENST00001133186

RefSeq mRNA: 3 — MANE Select: NM_017873 NM_001202403, NM_017873, NM_177999

CCDS: CCDS6924, CCDS6925, CCDS75919

Canonical transcript exons

ENST00000277458 — 6 exons

Exon	Start	End
ENSE00000984420	129640541	129640722
ENSE00000984421	129639402	129639508
ENSE00000984422	129639202	129639310
ENSE00002232308	129641887	129642151
ENSE00003544195	129638573	129638659
ENSE00003612082	129634605	129638457

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 88.03.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.9214 / max 133.8733, expressed in 1789 samples.

Highest expression (Bgee): granulocyte, frontal lobe, mucosa of stomach, hemisphere of cerebellum, prefrontal cortex.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ASB6 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 8 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

8 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Nerve Tibial	eqtl	7.3e-05	-0.48	9:129638672:GGA:G
Testis	eqtl	1.6e-03	-0.40	9:129638672:GGA:G
Pancreas	eqtl	1.2e-02	-0.57	9:129379664:A:G
Muscle Skeletal	eqtl	1.7e-02	-0.29	9:129658250:G:A
Pituitary	eqtl	3.0e-02	+0.48	9:128790280:G:A
Spleen	eqtl	4.5e-02	-0.83	9:129744892:T:A
Whole Blood	eqtl	4.7e-02	-0.31	9:129676547:A:G
Cells Cultured fibroblasts	eqtl	5.0e-02	+0.27	9:129645801:C:A

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
102750	10.9214	1789

Top tissues by expression

showing 100 of 284 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	88.03	gold quality
right frontal lobe	UBERON:0002810	85.92	gold quality
mucosa of stomach	UBERON:0001199	85.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	85.11	gold quality
prefrontal cortex	UBERON:0000451	85.10	gold quality
left adrenal gland cortex	UBERON:0035825	84.95	gold quality
middle temporal gyrus	UBERON:0002771	84.76	gold quality
left adrenal gland	UBERON:0001234	84.71	gold quality
right adrenal gland cortex	UBERON:0035827	84.71	gold quality
cerebellar hemisphere	UBERON:0002245	84.60	gold quality
cerebellar cortex	UBERON:0002129	84.53	gold quality
anterior cingulate cortex	UBERON:0009835	84.42	gold quality
cingulate cortex	UBERON:0003027	84.41	gold quality
right adrenal gland	UBERON:0001233	84.25	gold quality
skin of leg	UBERON:0001511	84.25	gold quality
lower esophagus mucosa	UBERON:0035834	83.95	gold quality
adrenal cortex	UBERON:0001235	83.81	gold quality
Brodmann (1909) area 9	UBERON:0013540	83.78	gold quality
cerebellum	UBERON:0002037	83.48	gold quality
frontal cortex	UBERON:0001870	83.40	gold quality
frontal lobe	UBERON:0016525	83.40	gold quality
neocortex	UBERON:0001950	83.27	gold quality
mucosa of transverse colon	UBERON:0004991	83.24	gold quality
stromal cell of endometrium	CL:0002255	83.23	gold quality
body of stomach	UBERON:0001161	83.13	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	83.03	gold quality
metanephros cortex	UBERON:0010533	82.94	gold quality
skin of abdomen	UBERON:0001416	82.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.73	gold quality
adrenal gland	UBERON:0002369	82.49	gold quality
esophagus mucosa	UBERON:0002469	82.30	gold quality
cortical plate	UBERON:0005343	82.23	gold quality
apex of heart	UBERON:0002098	82.12	gold quality
nucleus accumbens	UBERON:0001882	82.06	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.00	gold quality
zone of skin	UBERON:0000014	81.98	gold quality
spleen	UBERON:0002106	81.94	gold quality
caudate nucleus	UBERON:0001873	81.92	gold quality
cerebral cortex	UBERON:0000956	81.61	gold quality
putamen	UBERON:0001874	81.57	gold quality
right coronary artery	UBERON:0001625	81.48	gold quality
parotid gland	UBERON:0001831	81.40	gold quality
thoracic aorta	UBERON:0001515	81.35	gold quality
esophagus	UBERON:0001043	81.34	gold quality
adenohypophysis	UBERON:0002196	81.28	gold quality
ascending aorta	UBERON:0001496	81.26	gold quality
telencephalon	UBERON:0001893	81.09	gold quality
leukocyte	CL:0000738	81.03	gold quality
body of pancreas	UBERON:0001150	80.93	gold quality
monocyte	CL:0000576	80.87	gold quality
left coronary artery	UBERON:0001626	80.86	gold quality
right uterine tube	UBERON:0001302	80.82	gold quality
lower esophagus	UBERON:0013473	80.80	gold quality
mononuclear cell	CL:0000842	80.78	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.78	gold quality
aorta	UBERON:0000947	80.77	gold quality
amygdala	UBERON:0001876	80.65	gold quality
minor salivary gland	UBERON:0001830	80.61	gold quality
forebrain	UBERON:0001890	80.60	gold quality
descending thoracic aorta	UBERON:0002345	80.60	gold quality
stomach	UBERON:0000945	80.57	gold quality
brain	UBERON:0000955	80.48	gold quality
popliteal artery	UBERON:0002250	80.47	gold quality
transverse colon	UBERON:0001157	80.46	gold quality
tibial artery	UBERON:0007610	80.46	gold quality
ectocervix	UBERON:0012249	80.46	gold quality
saliva-secreting gland	UBERON:0001044	80.31	gold quality
coronary artery	UBERON:0001621	80.28	gold quality
left uterine tube	UBERON:0001303	80.23	gold quality
blood	UBERON:0000178	80.05	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.03	gold quality
mouth mucosa	UBERON:0003729	79.72	gold quality
endocervix	UBERON:0000458	79.64	gold quality
body of uterus	UBERON:0009853	79.55	gold quality
olfactory bulb	UBERON:0002264	79.49	gold quality
lymph node	UBERON:0000029	79.45	gold quality
right lobe of thyroid gland	UBERON:0001119	79.42	gold quality
omental fat pad	UBERON:0010414	79.40	gold quality
peritoneum	UBERON:0002358	79.37	gold quality
secondary oocyte	CL:0000655	79.19	gold quality
ganglionic eminence	UBERON:0004023	79.14	gold quality
pituitary gland	UBERON:0000007	79.02	gold quality
pancreas	UBERON:0001264	78.96	gold quality
Ammon’s horn	UBERON:0001954	78.94	gold quality
heart left ventricle	UBERON:0002084	78.81	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.80	gold quality
upper lobe of left lung	UBERON:0008952	78.76	gold quality
left lobe of thyroid gland	UBERON:0001120	78.72	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.72	gold quality
vagina	UBERON:0000996	78.69	gold quality
fundus of stomach	UBERON:0001160	78.61	gold quality
adipose tissue of abdominal region	UBERON:0007808	78.55	gold quality
nerve	UBERON:0001021	78.47	gold quality
tibial nerve	UBERON:0001323	78.47	gold quality
cardiac ventricle	UBERON:0002082	78.47	gold quality
gastrocnemius	UBERON:0001388	78.46	gold quality
ventricular zone	UBERON:0003053	78.39	gold quality
small intestine	UBERON:0002108	78.32	gold quality
right ovary	UBERON:0002118	78.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.09

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	27.6
Hippocampus	tissue	26.0	medium
Bone marrow	tissue	25.3	medium
Nucleus accumbens	tissue	24.7
Postcentral gyrus	tissue	24.1
Locus coeruleus	tissue	23.7
Spinal cord	tissue	16.4
Cerebral cortex	tissue	14.3	medium
Somatosensory cortex	tissue	14.3
Pons	tissue	13.1
Hippocampal formation	tissue	13.1
Skin 1	tissue	12.8	medium
Thalamus	tissue	12.8
Prefrontal cortex	tissue	12.6
Motor cortex	tissue	12.5
Substantia nigra	tissue	12.2
Pituitary gland	tissue	12.1
Superior colliculi	tissue	12.1
Temporal cortex	tissue	11.9
Retrosplenial and cingulate cortex	tissue	11.8
Midbrain	tissue	11.6
Vagina	tissue	11.5	medium
Medulla oblongata	tissue	11.4
Cerebellum	tissue	11.2	medium
Retrosplenial cortex	tissue	11.2
Occipital cortex	tissue	11.2
Basal ganglia	tissue	10.9	low
Insular cortex	tissue	10.9
Entorhinal cortex	tissue	10.8
Ventral forebrain	tissue	10.8
Lymph node	tissue	10.7	medium
Putamen	tissue	10.5
Thymus	tissue	10.4
Hypothalamus	tissue	10.0
Pancreas	tissue	9.8	high
Septum	tissue	9.8
Amygdala	tissue	9.4
Spleen	tissue	9.3	low
Salivary gland	tissue	9.2	medium
Fallopian tube	tissue	9.2	high
Stomach 1	tissue	8.9	high
Parathyroid gland	tissue	8.6	medium
Adrenal gland	tissue	8.5	medium
Olfactory bulb	tissue	8.5
Tonsil	tissue	8.4	medium
Periaqueductal gray	tissue	8.4
Corpus callosum	tissue	8.3
Appendix	tissue	8.2	medium
Seminal vesicle	tissue	8.1	medium
Urinary bladder	tissue	7.5	medium
Heart muscle	tissue	7.1	low
Duodenum	tissue	7.1	high
Placenta	tissue	6.9	high
Testis	tissue	6.8	medium
Esophagus	tissue	6.8	low
Breast	tissue	6.7	medium
Adipose tissue	tissue	6.5	low
Lung	tissue	6.5	medium
Small intestine	tissue	6.3	high
Prostate	tissue	6.3	low

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Precentral gyrus (29.8), Area postrema (29.4), Hippocampus, CA1 (28.5), Hippocampus, CA3 (28.5), Nucleus ambiguus (27.8).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ASB6 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 122 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481

Functional genomics

gnomAD constraint: pLI 2.65e-07, LOEUF 1.23, missense Z 0.784 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000277458 — one region, missense o/e 0.93.

Literature-anchored findings (GeneRIF, showing 1)

• m[6]A-modified circFNDC3B inhibits colorectal cancer stemness and metastasis via RNF41-dependent ASB6 degradation. (PMID:36446779)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb6	ENSDARG00000007125
mus_musculus	Asb6	ENSMUSG00000039483
rattus_norvegicus	Asb6	ENSRNOG00000024786

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	Q5R4M7	99.3%	Diamond
Canis lupus familiaris	Q6F3J0	90.1%	Diamond
Gallus gallus	Q04861	71.9%	Diamond
Fowlpox virus strain NVSL	Q9J4Z4	52.8%	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
NTMT1	protein-coding	28989
C9orf50	protein-coding	375759
PRRX2	protein-coding	51450
PTGES	protein-coding	9536
LINC00963	ncRNA	100506190
PRRX2-AS1	ncRNA	101929437

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 6 — Q9NWX5 (reviewed: Q9NWX5)

All UniProt accessions (2): F6TX30, Q9NWX5

UniProt curated annotations — full annotation on UniProt →

Function. Probable 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. May play a role in the regulation of cell proliferation and autophagy by promoting the ubiquitination and degradation of SQSTM1.

Subunit / interactions. Binds APS. Identified in a complex with ELOB and ELOC. Interacts with CUL5 and RNF7. Interacts with SQSTM1.

Subcellular location. Cytoplasm.

Post-translational modifications. Ubiquitinated by RNF41; leading to proteasomal degradation.

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?
Q9NWX5-1	1	yes
Q9NWX5-2	2

RefSeq proteins (3): NP_001189332, NP_060343, NP_821066 (=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
IPR037327	ASB6_SOCS	Domain

Pfam: PF07525, PF12796, PF13637

UniProt features (9 total): repeat 6, chain 1, domain 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NWX5-F1	87.02	0.60

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH approved

Function

Pathways and Gene Ontology

Reactome pathways

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

7 pathways:

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

MSigDB gene sets: 124 (showing top): REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, MARTINEZ_RB1_TARGETS_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GCM_NF2, MARTINEZ_RB1_AND_TP53_TARGETS_UP, SCGGAAGY_ELK1_02, STEIN_ESRRA_TARGETS_DN, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, KASLER_HDAC7_TARGETS_1_UP, PURBEY_TARGETS_OF_CTBP1_NOT_SATB1_UP, BONOME_OVARIAN_CANCER_SURVIVAL_SUBOPTIMAL_DEBULKING, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, CSR_LATE_UP.V1_UP

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

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

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

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
intracellular anatomical structure	2
cellular anatomical structure	2
protein modification by small protein conjugation	1
signal transduction	1
binding	1
cytoplasm	1

Protein interactions and networks

STRING

showing 16 of 606 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB6	ASB7	Q9H672	638
ASB6	ASB1	Q9Y576	585
ASB6	RNF41	Q9H4P4	549
ASB6	ASB4	Q9Y574	506
ASB6	ASB9	Q96DX5	482
ASB6	SPATA9	Q9BWV2	476
ASB6	ASB11	Q8WXH4	472
ASB6	FBXO46	Q6PJ61	470
ASB6	ASB5	Q8WWX0	446
ASB6	ASB12	Q8WXK4	442
ASB6	CUL5	Q93034	428
ASB6	ASB15	Q8WXK1	415
ASB6	SPSB4	Q96A44	404
ASB6	ASB3	Q9Y575	388
ASB6	KIF24	Q5T7B8	370
ASB6	RNF123	Q5XPI4	370

IntAct

Human interaction partners of ASB6 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

19 partners by confidence:

Partner	Interaction type	MIscore	Records
RNF41	physical association	0.830	6
CUL5	physical association	0.780	2
POLR2A	physical association	0.740	3
RNF7	physical association	0.670	1
ELOC	association	0.640	2
SH2B2	physical association	0.560	6
CHRNB1	physical association	0.560	3
DUSP23	physical association	0.560	3
FAM9B	physical association	0.560	3
HOXB5	physical association	0.560	3
L3MBTL3	physical association	0.560	3
MOS	physical association	0.560	3
TARS2	physical association	0.560	3
TCAP	physical association	0.560	3
ZBTB42	physical association	0.560	3
ZNF587	physical association	0.560	3
ZNF655	physical association	0.560	3
POLR2D	association	0.530	3
HSP90AB1	physical association	0.400	1

BioGRID (150 interactions; top human partners by supporting records): RNF41 (Two-hybrid; 11 records), CUL5 (Affinity Capture-MS; 8 records), HIF1AN (Affinity Capture-MS; 4 records), POLR2A (Affinity Capture-MS; 4 records), RNF7 (Affinity Capture-MS; 4 records), COPS5 (Affinity Capture-MS; 3 records), TCEB1 (Affinity Capture-MS; 3 records), TCEB2 (Affinity Capture-MS; 3 records), ARIH2 (Affinity Capture-MS; 2 records), ASB3 (Affinity Capture-MS; 2 records), CORO7 (Affinity Capture-MS; 2 records), E2F6 (Affinity Capture-MS; 2 records), GPN3 (Affinity Capture-MS; 2 records), KIF2B (Affinity Capture-MS; 2 records), L3MBTL2 (Affinity Capture-MS; 2 records)

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
Ubiquitin E3 ligase (ASB6, TCEB1, TCEB2, CUL5, RNF7)	5	ASB6, CUL5, ELOB, ELOC, RNF7

Disease & clinical

Genetic variants

Variant evidence for ASB6: 103 ClinVar records (2 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	86
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (2)

Showing all 2 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	Pathogenic	criteria provided, single submitter	1
59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore ASB6’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 33 predictions of 537):

Position(s)	Effect	Δscore	Sites
9:129638458–129638459	acceptor_loss	1.0000	6
9:129639183	donor_gain	1.0000
9:129639200–129639201	donor_loss	1.0000	5
9:129639318	acceptor_gain	1.0000
9:129639400–129639401	donor_loss	1.0000	2
9:129639509–129639510	acceptor_loss	1.0000	5
9:129640540	donor_loss	1.0000
9:129638468	acceptor_gain	0.9900
9:129638571–129638572	donor_loss	0.9900	5
9:129638660–129638661	acceptor_loss	0.9900	6

AlphaMissense

995 missense substitutions predicted likely pathogenic (of 2,760 scored), across 264 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
D133	8	0.985	0.995
D142	8	0.981	0.988
D99	8	0.972	0.987
D183	8	0.969	0.992
H108	8	0.964	0.988
F7	8	0.961	0.997
H177	8	0.960	0.990
D168	8	0.959	0.991
H136	8	0.943	0.986
S138	8	0.879	0.996
H5	8	0.873	0.946
F304	8	0.804	0.921
D211	8	0.771	0.895
C289	7	0.979	0.993
W297	7	0.968	0.990
F3	7	0.962	0.993
E146	7	0.961	0.985
R9	7	0.949	0.991
F238	7	0.948	0.990
C256	7	0.936	0.985

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

1 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	3.96e-05

Disease associations

OMIM: gene MIM:615051 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	increases expression	2
aristolochic acid I	increases expression	1
quercitrin	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methotrexate	decreases expression	1
Phenylmercuric Acetate	decreases expression	1
Smoke	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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