CFAP97

Summary

CFAP97 (cilia and flagella associated protein 97, HGNC:29276) is a protein-coding gene on chromosome 4q35.1, encoding Cilia- and flagella-associated protein 97 (Q9P2B7).

At a glance

• Clinical variants (ClinVar): 128 total — 2 pathogenic
• GTEx eGene: eQTL in 33 tissues, sQTL in 11 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.09 (unconstrained)
• MANE Select transcript: NM_020827
• Notable: 128 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29276
Approved symbol	CFAP97
Name	cilia and flagella associated protein 97
Location	4q35.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434F1728, hmw
Ensembl gene	ENSG00000164323
Ensembl biotype	protein_coding
OMIM	616047
Entrez	57587

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 17 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

MANE Select: ENST00000458385

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2, TSL 4: 1

ENST00000458385, ENST00000502992, ENST00000503223, ENST00000514798, ENST00000647728, ENST00000873856, ENST00000927457, ENST00000927458, ENST00000927459, ENST00000927460, ENST00000927461, ENST00000927462, ENST00000927463, ENST00000968391, ENST00000968392, ENST00001023677, ENST00001023678, ENST00001023679, ENST00001109347, ENST00001136047

RefSeq mRNA: 2 — MANE Select: NM_020827 NM_001292033, NM_020827

CCDS: CCDS47168, CCDS75216

Canonical transcript exons

ENST00000458385 — 5 exons

Exon	Start	End
ENSE00001083483	185175786	185176051
ENSE00001309457	185190143	185191212
ENSE00001727232	185164029	185164179
ENSE00001759082	185159665	185162925
ENSE00002061385	185203898	185204000

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 98.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.6277 / max 265.9175, expressed in 1776 samples.

Highest expression (Bgee): endothelial cell, epithelial cell of pancreas, oviduct epithelium, pigmented layer of retina, retina.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP97 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 33 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 44 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Testis	eqtl	8.8e-26	+0.19	4:185203701:A:G
Adipose Subcutaneous	eqtl	5.4e-18	+0.15	4:185205712:C:T
Cells EBV-transformed lymphocytes	eqtl	7.6e-18	-0.35	4:185207640:C:G
Artery Tibial	eqtl	1.0e-17	+0.15	4:185203869:G:A
Artery Aorta	eqtl	2.3e-17	+0.24	4:185205712:C:T
Brain Cerebellum	eqtl	2.8e-16	-0.41	4:185163042:G:GA
Nerve Tibial	eqtl	1.0e-15	-0.15	4:185165412:A:C
Adipose Visceral Omentum	eqtl	1.5e-14	+0.17	4:185190485:T:C
Heart Atrial Appendage	eqtl	1.4e-13	+0.21	4:185203805:TG:T
Brain Cerebellar Hemisphere	eqtl	4.6e-13	-0.23	4:185166484:G:A
Breast Mammary Tissue	eqtl	3.0e-12	-0.17	4:185165412:A:C
Esophagus Mucosa	eqtl	4.2e-10	+0.14	4:185203805:TG:T
Cells Cultured fibroblasts	eqtl	1.2e-09	-0.46	4:185158677:G:A
Testis	sqtl	2.4e-09	+0.57	4:185205712:C:T
Brain Frontal Cortex BA9	eqtl	4.7e-09	+0.21	4:185203869:G:A
Colon Sigmoid	eqtl	1.1e-08	+0.14	4:185203869:G:A
Artery Tibial	sqtl	1.5e-08	+0.41	4:185186700:A:G
Skin Sun Exposed Lower leg	sqtl	2.2e-08	-0.41	4:185205712:C:T
Skin Sun Exposed Lower leg	eqtl	9.1e-08	+0.10	4:185180627:T:A
Brain Hypothalamus	eqtl	2.0e-07	-0.23	4:185165412:A:C

FANTOM5 promoters

9 alternative TSS:

Promoter ID	TPM avg	Samples expressed
55246	18.4211	1765
55247	0.8551	519
55241	0.1701	21
55242	0.1198	25
55244	0.0356	8
55245	0.0131	4
55243	0.0058	3
203449	0.0045	3
203450	0.0026	2

Top tissues by expression

showing 100 of 262 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	98.14	gold quality
epithelial cell of pancreas	CL:0000083	97.74	gold quality
oviduct epithelium	UBERON:0004804	97.33	gold quality
pigmented layer of retina	UBERON:0001782	97.21	gold quality
retina	UBERON:0000966	97.18	gold quality
germinal epithelium of ovary	UBERON:0001304	96.76	gold quality
upper arm skin	UBERON:0004263	96.52	gold quality
caput epididymis	UBERON:0004358	96.44	gold quality
cauda epididymis	UBERON:0004360	96.35	gold quality
skin of hip	UBERON:0001554	96.20	gold quality
parietal pleura	UBERON:0002400	96.17	gold quality
calcaneal tendon	UBERON:0003701	96.02	gold quality
sperm	CL:0000019	95.98	gold quality
tibia	UBERON:0000979	95.93	gold quality
kidney epithelium	UBERON:0004819	95.93	gold quality
epithelium of mammary gland	UBERON:0003244	95.74	gold quality
mammary duct	UBERON:0001765	95.71	gold quality
visceral pleura	UBERON:0002401	95.57	gold quality
cartilage tissue	UBERON:0002418	95.25	gold quality
upper leg skin	UBERON:0004262	95.19	gold quality
corpus epididymis	UBERON:0004359	95.17	gold quality
layer of synovial tissue	UBERON:0007616	95.15	gold quality
saphenous vein	UBERON:0007318	94.91	gold quality
seminal vesicle	UBERON:0000998	94.90	gold quality
esophagus squamous epithelium	UBERON:0006920	94.61	gold quality
pericardium	UBERON:0002407	94.39	gold quality
gingival epithelium	UBERON:0001949	94.25	gold quality
bronchial epithelial cell	CL:0002328	94.12	gold quality
synovial joint	UBERON:0002217	94.12	gold quality
gingiva	UBERON:0001828	94.05	gold quality
eye	UBERON:0000970	94.01	gold quality
bronchus	UBERON:0002185	94.01	gold quality
trabecular bone tissue	UBERON:0002483	93.98	gold quality
superficial temporal artery	UBERON:0001614	93.90	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.78	gold quality
adult organism	UBERON:0007023	93.64	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.58	gold quality
mammalian vulva	UBERON:0000997	93.57	gold quality
urethra	UBERON:0000057	93.47	gold quality
penis	UBERON:0000989	93.47	gold quality
mammary gland	UBERON:0001911	93.47	gold quality
thoracic mammary gland	UBERON:0005200	93.42	gold quality
palpebral conjunctiva	UBERON:0001812	92.98	gold quality
nipple	UBERON:0002030	92.72	gold quality
Brodmann (1909) area 46	UBERON:0006483	92.65	gold quality
oral cavity	UBERON:0000167	92.50	gold quality
trigeminal ganglion	UBERON:0001675	92.43	gold quality
epithelium of nasopharynx	UBERON:0001951	92.29	gold quality
nasopharynx	UBERON:0001728	92.27	gold quality
cardiac muscle of right atrium	UBERON:0003379	91.97	gold quality
vena cava	UBERON:0004087	91.85	gold quality
ventricular zone	UBERON:0003053	91.75	gold quality
ileal mucosa	UBERON:0000331	91.74	gold quality
endometrium	UBERON:0001295	91.73	gold quality
tendon	UBERON:0000043	91.67	gold quality
cortical plate	UBERON:0005343	91.61	gold quality
dorsal root ganglion	UBERON:0000044	91.50	gold quality
mucosa of paranasal sinus	UBERON:0005030	90.94	gold quality
left ventricle myocardium	UBERON:0006566	90.75	gold quality
corpus callosum	UBERON:0002336	90.73	gold quality
tibialis anterior	UBERON:0001385	90.72	gold quality
lower lobe of lung	UBERON:0008949	90.67	gold quality
renal medulla	UBERON:0000362	90.52	gold quality
islet of Langerhans	UBERON:0000006	90.28	gold quality
myocardium	UBERON:0002349	90.23	gold quality
embryo	UBERON:0000922	90.11	gold quality
ganglionic eminence	UBERON:0004023	90.11	gold quality
entorhinal cortex	UBERON:0002728	89.91	gold quality
medulla oblongata	UBERON:0001896	89.89	gold quality
colonic epithelium	UBERON:0000397	89.88	gold quality
decidua	UBERON:0002450	89.78	gold quality
medial globus pallidus	UBERON:0002477	89.64	gold quality
tonsil	UBERON:0002372	89.63	gold quality
popliteal artery	UBERON:0002250	89.61	gold quality
tibial artery	UBERON:0007610	89.61	gold quality
fallopian tube	UBERON:0003889	89.58	gold quality
superior surface of tongue	UBERON:0007371	89.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	89.37	gold quality
deltoid	UBERON:0001476	89.33	gold quality
globus pallidus	UBERON:0001875	89.26	gold quality
superior vestibular nucleus	UBERON:0007227	89.18	gold quality
cerebellar vermis	UBERON:0004720	88.95	gold quality
trachea	UBERON:0003126	88.93	gold quality
inferior vagus X ganglion	UBERON:0005363	88.83	gold quality
aorta	UBERON:0000947	88.82	gold quality
smooth muscle tissue	UBERON:0001135	88.66	gold quality
uterus	UBERON:0000995	88.62	gold quality
descending thoracic aorta	UBERON:0002345	88.44	gold quality
middle temporal gyrus	UBERON:0002771	88.33	gold quality
placenta	UBERON:0001987	88.32	gold quality
testis	UBERON:0000473	88.25	gold quality
urinary bladder	UBERON:0001255	88.25	gold quality
subthalamic nucleus	UBERON:0001906	88.19	gold quality
adrenal tissue	UBERON:0018303	88.00	gold quality
colonic mucosa	UBERON:0000317	87.94	gold quality
pancreatic ductal cell	CL:0002079	87.82	silver quality
amniotic fluid	UBERON:0000173	87.71	gold quality
pharyngeal mucosa	UBERON:0000355	87.71	gold quality
thoracic aorta	UBERON:0001515	87.71	gold quality
ascending aorta	UBERON:0001496	87.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.97

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Putamen	tissue	36.8
Cerebral cortex	tissue	36.3	medium
Somatosensory cortex	tissue	36.3
Occipital cortex	tissue	35.3
Pons	tissue	34.9
Testis	tissue	34.6	high
Motor cortex	tissue	34.2
Superior colliculi	tissue	33.9
Thalamus	tissue	33.6
Hippocampal formation	tissue	32.9
Midbrain	tissue	31.8
Entorhinal cortex	tissue	31.1
Prefrontal cortex	tissue	30.7
Septum	tissue	30.5
Retrosplenial and cingulate cortex	tissue	30.4
Cerebellum	tissue	30.3	not detected
Temporal cortex	tissue	30.2
Choroid plexus	tissue	29.8
Retrosplenial cortex	tissue	29.5
Ventral forebrain	tissue	28.4
Basal ganglia	tissue	27.6	not detected
Substantia nigra	tissue	27.6
Hypothalamus	tissue	27.2
Insular cortex	tissue	26.2
Medulla oblongata	tissue	26.1
Thyroid gland	tissue	25.2	medium
Periaqueductal gray	tissue	25.1
Amygdala	tissue	24.9
Spinal cord	tissue	24.4
Nucleus accumbens	tissue	24.3
Postcentral gyrus	tissue	21.8
Corpus callosum	tissue	21.4
Hippocampus	tissue	21.2	not detected
Locus coeruleus	tissue	20.6
Olfactory bulb	tissue	19.8
Breast	tissue	19.3	medium
Ovary	tissue	18.9	low
Parathyroid gland	tissue	18.9	not detected
Esophagus	tissue	17.8	medium
Liver	tissue	17.5	medium
Endometrium 1	tissue	17.4	medium
Spleen	tissue	17.3	medium
Caudate putamen	tissue	16.3
Cervix	tissue	16.2	medium
Lymph node	tissue	16.2	medium
Seminal vesicle	tissue	16.2	medium
Prostate	tissue	16.2	medium
Retina	tissue	16.1
Smooth muscle	tissue	15.8	medium
Adipose tissue	tissue	15.5	not detected
Kidney	tissue	15.0	medium
Tonsil	tissue	14.9	medium
Fallopian tube	tissue	14.2	medium
Gallbladder	tissue	14.0	medium
Appendix	tissue	13.7	medium
Urinary bladder	tissue	13.6	medium
Frontal cortex	tissue	13.4
Placenta	tissue	12.8	low
Lung	tissue	12.5	medium
Salivary gland	tissue	11.3	low

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Dorsal hippocampus (32.9), Corpus callosum, genu (white matter) (30.6), Subiculum (29.2), Cerebellar cortex (27.9), Vermis (27.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP97 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 128 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
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-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421

Functional genomics

gnomAD constraint: pLI 6.93e-11, LOEUF 1.09, missense Z -0.236 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000458385 — one region, missense o/e 1.06.

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap97	ENSDARG00000056381
mus_musculus	Cfap97	ENSMUSG00000031631
rattus_norvegicus	Cfap97	ENSRNOG00000032192

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	Q5RD75	97.2%	Diamond
Bos taurus	Q2KJH5	71.5%	Diamond
Xenopus tropicalis	A4IJ15	41.5%	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
LINC02437	ncRNA	107986333
SLC25A4	protein-coding	291
HELT	protein-coding	391723
SNX25	protein-coding	83891
LINC02436	ncRNA	101928877
ANKRD37	protein-coding	353322
LRP2BP	protein-coding	55805
CFAP96	protein-coding	441054
UFSP2	protein-coding	55325
CCDC110	protein-coding	256309
CCDC110-AS1	ncRNA	105377590

Protein

Protein identifiers

Cilia- and flagella-associated protein 97 — Q9P2B7 (reviewed: Q9P2B7)

All UniProt accessions (3): Q9P2B7, A0A3B3IRJ5, D6RDU8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the CFAP97 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P2B7-1	1	yes
Q9P2B7-2	2

RefSeq proteins (2): NP_001278962, NP_065878* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029488	Hmw/CFAP97	Family
IPR038791	Cfap97/Hemingway	Family

Pfam: PF13879

UniProt features (29 total): compositionally biased region 10, modified residue 7, region of interest 5, splice variant 2, sequence variant 2, chain 1, sequence conflict 1, coiled-coil region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2B7-F1	58.55	0.14

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoli fibrillar center; cytosol; primary cilium

Antibody reliability (HPA): IH uncertain · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (7)

Type	Positions
Phosphoserine	19, 138, 139, 218, 248, 330
Phosphothreonine	133

Function

Pathways and Gene Ontology

Reactome pathways

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

MSigDB gene sets: 83 (showing top): HORIUCHI_WTAP_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MARTINEZ_RB1_TARGETS_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, chr4q35, ZHANG_BREAST_CANCER_PROGENITORS_UP, MARTINEZ_RB1_AND_TP53_TARGETS_UP, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, GCM_RAB10, NFE2L2.V2, CSHL1_TARGET_GENES, MAML1_TARGET_GENES, PCGF1_TARGET_GENES, SKIL_TARGET_GENES

Protein interactions and networks

STRING

showing 15 of 550 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP97	CFAP97D2	A0A1B0GU71	647
CFAP97	TTLL1	O95922	474
CFAP97	SNX25	Q9H3E2	470
CFAP97	RBM18	Q96H35	468
CFAP97	CFAP96	A7E2U8	441
CFAP97	FAM32A	Q9Y421	411
CFAP97	FAM149A	A5PLN7	388
CFAP97	RPH3AL	Q9UNE2	370
CFAP97	UBOX5	O94941	365
CFAP97	SORBS1	Q9BX66	365
CFAP97	UNC5D	Q6UXZ4	362
CFAP97	STOX2	Q9P2F5	352
CFAP97	CFAP97D1	B2RV13	351
CFAP97	PROSER3	Q2NL68	340
CFAP97	ZMAT2	Q96NC0	335

IntAct

Human interaction partners of CFAP97 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

5 partners by confidence:

Partner	Interaction type	MIscore	Records
CDC27	association	0.460	1
PLA2G4F	physical association	0.400	1
RRBP1	physical association	0.400	1
CSNK2A1	association	0.350	1
FAM13A	physical association	0.000	1

BioGRID (76 interactions; top human partners by supporting records): ANAPC15 (Affinity Capture-MS; 2 records), CDC27 (Affinity Capture-Western; 2 records), CSNK2A1 (Affinity Capture-MS; 2 records), CSNK2A2 (Affinity Capture-MS; 2 records), DCTN1 (Proximity Label-MS; 2 records), ANAPC1 (Affinity Capture-MS), ANAPC10 (Affinity Capture-MS), ANAPC16 (Affinity Capture-MS), ANAPC4 (Affinity Capture-MS), ANAPC5 (Affinity Capture-MS), ANAPC7 (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), APBA1 (Affinity Capture-MS), ARPC3 (Affinity Capture-MS), BCAP31 (Cross-Linking-MS (XL-MS))

Disease & clinical

Genetic variants

Variant evidence for CFAP97: 128 ClinVar records (2 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	101
Likely benign	9
Benign	4

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
57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	Pathogenic	criteria provided, single submitter	1
625785	GRCh37/hg19 4q34.1-35.2(chr4:174610492-190427545)	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore CFAP97’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; 29 predictions of 457):

Position(s)	Effect	Δscore	Sites
4:185162926–185162927	acceptor_loss	1.0000	3
4:185164027–185164028	donor_loss	1.0000	3
4:185164032	donor_gain	1.0000
4:185164180–185164181	acceptor_loss	1.0000	2
4:185164184	acceptor_gain	1.0000
4:185175784–185175785	donor_loss	1.0000	5
4:185176052–185176053	acceptor_loss	1.0000	6
4:185191213–185191214	acceptor_loss	1.0000	5
4:185162927	acceptor_loss	0.9900	2
4:185164028	donor_loss	0.9900

AlphaMissense

631 missense substitutions predicted likely pathogenic (of 3,486 scored), across 146 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
N391	8	0.993	0.998
N439	8	0.992	0.997
F379	8	0.954	0.997
D388	8	0.914	0.972
D254	8	0.912	0.957
D345	8	0.889	0.933
H423	8	0.879	0.986
D13	8	0.874	0.932
H14	8	0.848	0.952
N376	8	0.830	0.941
F353	8	0.821	0.969
D18	8	0.773	0.851
R445	7	0.947	0.996
W531	7	0.900	0.988
E390	7	0.892	0.986
I435	7	0.891	0.996
F17	7	0.888	0.972
R393	7	0.882	0.991
E438	7	0.868	0.990
F16	7	0.862	0.978

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	2.6e-07
Kidney Renal Clear Cell Carcinoma (validation)	favorable	0.000413
Kidney Chromophobe (TCGA)	unfavorable	0.000676

Disease associations

OMIM: gene MIM:616047 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	8
Estradiol	increases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
trichostatin A	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	decreases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Ribonucleotides	affects binding	1
Tetrachlorodibenzodioxin	affects expression	1
Theophylline	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	decreases methylation	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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