CFAP68

Summary

CFAP68 (cilia and flagella associated protein 68, HGNC:1163) is a protein-coding gene on chromosome 11q23.1, encoding Cilia- and flagella-associated protein 68 (Q9H5F2). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Predicted to be involved in flagellated sperm motility. Located in axoneme and nucleoplasm.

Source: NCBI Gene 64776 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 10 total
• GTEx eGene: eQTL in 32 tissues, sQTL in 5 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.71 (unconstrained)
• MANE Select transcript: NM_022761

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1163
Approved symbol	CFAP68
Name	cilia and flagella associated protein 68
Location	11q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23499
Ensembl gene	ENSG00000137720
Ensembl biotype	protein_coding
Entrez	64776

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

MANE Select: ENST00000260276

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 2: 2, TSL 3: 1, TSL 5: 1

ENST00000260276, ENST00000528125, ENST00000529270, ENST00000530214, ENST00000530799, ENST00000984552, ENST00001086026, ENST00001138795

RefSeq mRNA: 2 — MANE Select: NM_022761 NM_001330371, NM_022761

CCDS: CCDS81625, CCDS8350

Canonical transcript exons

ENST00000260276 — 4 exons

Exon	Start	End
ENSE00000930521	111883136	111883202
ENSE00002182218	111879541	111879605
ENSE00003463349	111882368	111882598
ENSE00004793538	111883771	111885975

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 95.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.8470 / max 842.5898, expressed in 1817 samples.

Highest expression (Bgee): sperm, testis, body of pancreas, nucleus accumbens, olfactory segment of nasal mucosa.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CFAP68 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 32 tissues and its splicing (sQTL) in 5 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 37 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Heart Atrial Appendage	eqtl	2.0e-15	-0.27	11:111821458:G:A
Cells Cultured fibroblasts	eqtl	5.7e-14	-0.22	11:111821458:G:A
Skin Not Sun Exposed Suprapubic	eqtl	7.7e-11	-0.20	11:111911973:G:C
Brain Caudate basal ganglia	eqtl	9.5e-11	-0.26	11:111802815:A:G
Heart Left Ventricle	eqtl	1.1e-10	-0.19	11:111800296:T:C
Brain Nucleus accumbens basal ganglia	eqtl	1.8e-10	-0.28	11:111911973:G:C
Skin Sun Exposed Lower leg	eqtl	4.3e-10	-0.17	11:111800296:T:C
Esophagus Mucosa	eqtl	1.4e-07	-0.18	11:111800296:T:C
Brain Frontal Cortex BA9	eqtl	3.2e-07	-0.30	11:111800296:T:C
Muscle Skeletal	eqtl	1.8e-06	-0.17	11:111905713:G:C
Brain Cortex	eqtl	4.3e-06	-0.30	11:111905713:G:C
Brain Putamen basal ganglia	eqtl	1.3e-05	-0.23	11:111844847:G:C
Adipose Visceral Omentum	eqtl	3.1e-05	-0.16	11:111885098:C:T
Brain Cerebellum	eqtl	3.4e-05	-0.31	11:111793677:C:T
Pancreas	eqtl	4.9e-05	-0.21	11:111911973:G:C
Cells EBV-transformed lymphocytes	sqtl	6.3e-05	-0.44	11:111821458:G:A
Colon Transverse	eqtl	8.0e-05	-0.18	11:111821458:G:A
Adipose Subcutaneous	eqtl	1.2e-04	-0.16	11:111905713:G:C
Brain Anterior cingulate cortex BA24	eqtl	2.0e-04	-0.25	11:111911973:G:C
Adrenal Gland	eqtl	2.5e-04	-0.20	11:111885098:C:T

FANTOM5 promoters

6 alternative TSS:

Promoter ID	TPM avg	Samples expressed
116641	26.1307	1804
116636	2.5973	1298
116639	1.3765	674
116637	0.4138	197
116640	0.2854	145
116638	0.0432	13

Top tissues by expression

showing 100 of 278 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	95.77	gold quality
left testis	UBERON:0004533	95.02	gold quality
right testis	UBERON:0004534	94.97	gold quality
body of pancreas	UBERON:0001150	94.00	gold quality
nucleus accumbens	UBERON:0001882	93.67	gold quality
testis	UBERON:0000473	93.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.14	gold quality
caudate nucleus	UBERON:0001873	92.75	gold quality
right adrenal gland	UBERON:0001233	92.73	gold quality
left adrenal gland	UBERON:0001234	92.51	gold quality
left adrenal gland cortex	UBERON:0035825	92.47	gold quality
male germ cell	CL:0000015	92.33	gold quality
putamen	UBERON:0001874	92.05	gold quality
right adrenal gland cortex	UBERON:0035827	92.04	gold quality
adrenal cortex	UBERON:0001235	91.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.40	gold quality
pancreas	UBERON:0001264	91.30	gold quality
right atrium auricular region	UBERON:0006631	91.08	gold quality
metanephros cortex	UBERON:0010533	91.06	gold quality
islet of Langerhans	UBERON:0000006	91.01	gold quality
skin of abdomen	UBERON:0001416	90.75	gold quality
adrenal gland	UBERON:0002369	90.75	gold quality
body of stomach	UBERON:0001161	90.65	gold quality
corpus epididymis	UBERON:0004359	90.58	gold quality
rectum	UBERON:0001052	90.43	gold quality
adenohypophysis	UBERON:0002196	90.31	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.99	gold quality
amygdala	UBERON:0001876	89.77	gold quality
spinal cord	UBERON:0002240	89.71	gold quality
adult organism	UBERON:0007023	89.60	gold quality
skin of leg	UBERON:0001511	89.58	gold quality
pituitary gland	UBERON:0000007	89.49	gold quality
anterior cingulate cortex	UBERON:0009835	89.43	gold quality
cingulate cortex	UBERON:0003027	89.29	gold quality
right lobe of liver	UBERON:0001114	89.25	gold quality
prefrontal cortex	UBERON:0000451	89.07	gold quality
left lobe of thyroid gland	UBERON:0001120	88.94	gold quality
colonic epithelium	UBERON:0000397	88.61	gold quality
cardiac atrium	UBERON:0002081	88.58	gold quality
zone of skin	UBERON:0000014	88.55	gold quality
renal medulla	UBERON:0000362	88.52	gold quality
thyroid gland	UBERON:0002046	88.43	gold quality
gall bladder	UBERON:0002110	88.42	gold quality
minor salivary gland	UBERON:0001830	88.39	gold quality
heart left ventricle	UBERON:0002084	88.36	gold quality
right lobe of thyroid gland	UBERON:0001119	88.28	gold quality
stomach	UBERON:0000945	88.17	gold quality
cardiac ventricle	UBERON:0002082	88.13	gold quality
heart	UBERON:0000948	88.05	gold quality
palpebral conjunctiva	UBERON:0001812	88.04	gold quality
left ovary	UBERON:0002119	87.93	gold quality
bronchial epithelial cell	CL:0002328	87.86	gold quality
cortex of kidney	UBERON:0001225	87.55	gold quality
adult mammalian kidney	UBERON:0000082	87.53	gold quality
right uterine tube	UBERON:0001302	87.45	gold quality
esophagus mucosa	UBERON:0002469	87.45	gold quality
right frontal lobe	UBERON:0002810	87.31	gold quality
saliva-secreting gland	UBERON:0001044	87.25	gold quality
apex of heart	UBERON:0002098	87.20	gold quality
esophagus	UBERON:0001043	87.12	gold quality
mouth mucosa	UBERON:0003729	87.04	gold quality
omental fat pad	UBERON:0010414	86.89	gold quality
peritoneum	UBERON:0002358	86.88	gold quality
lower esophagus	UBERON:0013473	86.86	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.85	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.82	gold quality
transverse colon	UBERON:0001157	86.79	gold quality
lower esophagus mucosa	UBERON:0035834	86.77	gold quality
left coronary artery	UBERON:0001626	86.76	gold quality
mucosa of transverse colon	UBERON:0004991	86.76	gold quality
adipose tissue of abdominal region	UBERON:0007808	86.70	gold quality
prostate gland	UBERON:0002367	86.66	gold quality
ovary	UBERON:0000992	86.64	gold quality
lateral globus pallidus	UBERON:0002476	86.43	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.21	gold quality
ectocervix	UBERON:0012249	86.20	gold quality
forebrain	UBERON:0001890	86.19	gold quality
caput epididymis	UBERON:0004358	86.16	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.15	gold quality
coronary artery	UBERON:0001621	86.11	gold quality
telencephalon	UBERON:0001893	86.11	gold quality
fundus of stomach	UBERON:0001160	86.00	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.87	gold quality
mucosa of stomach	UBERON:0001199	85.85	gold quality
descending thoracic aorta	UBERON:0002345	85.83	gold quality
right coronary artery	UBERON:0001625	85.80	gold quality
cauda epididymis	UBERON:0004360	85.71	gold quality
right ovary	UBERON:0002118	85.68	gold quality
neocortex	UBERON:0001950	85.67	gold quality
tibial artery	UBERON:0007610	85.64	gold quality
popliteal artery	UBERON:0002250	85.62	gold quality
thoracic aorta	UBERON:0001515	85.57	gold quality
aorta	UBERON:0000947	85.54	gold quality
vagina	UBERON:0000996	85.54	gold quality
ascending aorta	UBERON:0001496	85.52	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	85.43	gold quality
cortical plate	UBERON:0005343	85.42	gold quality
frontal cortex	UBERON:0001870	85.32	gold quality
upper leg skin	UBERON:0004262	85.21	gold quality
adrenal tissue	UBERON:0018303	85.21	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.49
E-MTAB-7303	no	588.91
E-GEOD-36552	no	54.72

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Kidney	tissue	65.4	medium
Cerebral cortex	tissue	62.4	low
Somatosensory cortex	tissue	62.4
Occipital cortex	tissue	60.8
Epididymis	tissue	60.7	not detected
Putamen	tissue	60.0
Corpus callosum	tissue	59.7
Caudate putamen	tissue	58.9
Testis	tissue	57.0	not detected
Motor cortex	tissue	56.6
Frontal cortex	tissue	56.1
Prefrontal cortex	tissue	55.4
Pons	tissue	54.7
Medulla oblongata	tissue	54.7
Thalamus	tissue	54.6
Hippocampal formation	tissue	54.4
Entorhinal cortex	tissue	54.4
Midbrain	tissue	53.7
Spinal cord	tissue	52.5
Basal ganglia	tissue	52.3	low
Periaqueductal gray	tissue	52.3
Ventral forebrain	tissue	52.2
Temporal cortex	tissue	52.2
Septum	tissue	52.0
Retrosplenial and cingulate cortex	tissue	51.7
Retrosplenial cortex	tissue	51.4
Substantia nigra	tissue	51.2
Liver	tissue	51.2	not detected
Superior colliculi	tissue	51.0
Insular cortex	tissue	50.0
Hypothalamus	tissue	49.1
Olfactory bulb	tissue	47.4
Cerebellum	tissue	46.6	low
Breast	tissue	46.0	low
Amygdala	tissue	45.6
Thyroid gland	tissue	38.5	not detected
Parathyroid gland	tissue	37.4	not detected
Pancreas	tissue	35.3	low
Salivary gland	tissue	31.1	not detected
Adrenal gland	tissue	29.5	not detected
Ovary	tissue	28.4	not detected
Heart muscle	tissue	28.2	not detected
Pituitary gland	tissue	27.1
Skin 1	tissue	27.1	low
Fallopian tube	tissue	26.8	low
Stomach 1	tissue	26.1	not detected
Prostate	tissue	25.6	not detected
Seminal vesicle	tissue	25.3	not detected
Rectum	tissue	24.7	not detected
Colon	tissue	24.6	not detected
Urinary bladder	tissue	21.2	not detected
Nucleus accumbens	tissue	21.0
Retina	tissue	20.7
Adipose tissue	tissue	20.2	not detected
Small intestine	tissue	20.1	not detected
Tongue	tissue	19.7
Cervix	tissue	19.2	not detected
Duodenum	tissue	19.1	not detected
Thymus	tissue	18.9
Gallbladder	tissue	18.4	not detected

Brain sub-regions (HPA Brain Atlas): detected in 190; highest nTPM — White matter (59.7), Dorsal hippocampus (54.2), Dorsal spinal cord (52.5), Ventral hippocampus (50.2), Subiculum (49.0).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CFAP68 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

26 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-16-2-3P	99.29	70.60	1954
HSA-MIR-195-3P	99.29	70.61	1954
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-4718	98.55	68.61	814
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-490-3P	97.79	65.54	606
HSA-MIR-4693-5P	97.35	67.02	1234
HSA-MIR-514A-5P	96.94	65.49	801
HSA-MIR-3156-5P	96.93	67.36	800
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-610	96.84	67.98	905
HSA-MIR-7161-3P	96.79	68.79	798
HSA-MIR-4693-3P	95.23	65.92	735

Functional genomics

gnomAD constraint: pLI 4.01e-11, LOEUF 1.71, missense Z -0.0423 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000260276 — one region, missense o/e 1.01.

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfap68	ENSDARG00000101743
mus_musculus	Cfap68	ENSMUSG00000037971
rattus_norvegicus	Cfap68	ENSRNOG00000030962

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1915971) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
reproductive system phenotype	1

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
Macaca fascicularis	Q4R5Y0	96.6%	Diamond
Bos taurus	Q2T9Q3	85.3%	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
SIK2	protein-coding	23235
PPP2R1B	protein-coding	5519
ALG9	protein-coding	79796
FDXACB1	protein-coding	91893
CRYAB	protein-coding	1410
DLAT	protein-coding	1737
HSPB2	protein-coding	3316
DIXDC1	protein-coding	85458
C11orf52	protein-coding	91894
HSPB2-C11orf52	ncRNA	100528019

Protein

Protein identifiers

Cilia- and flagella-associated protein 68 — Q9H5F2 (reviewed: Q9H5F2)

All UniProt accessions (5): Q9H5F2, E9PLN1, E9PMC1, E9PS33, E9PS93

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme. Nucleus. Cell projection. Cilium.

Similarity. Belongs to the CFAP68 family.

RefSeq proteins (2): NP_001317300, NP_073598* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009524	CFAP68	Family
IPR037662	CFAP68/107	Family

Pfam: PF06608

UniProt features (6 total): sequence variant 3, region of interest 2, chain 1

Structure

Experimental structures (PDB)

2 structures by resolution:

PDB	Title	Method	Resolution (Å)
7UNG	48-nm repeat of the human respiratory doublet microtubule	ELECTRON MICROSCOPY	3.6
8J07	96nm repeat of human respiratory doublet microtubule and associated axonemal complexes	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H5F2-F1	69.73	0.03

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm

Antibody reliability (HPA): IH uncertain · IF enhanced

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: 134 (showing top): CREBP1_Q2, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, E4F1_Q6, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, CUI_TCF21_TARGETS_2_DN, CREBP1_01, TGGAAA_NFAT_Q4_01, GOCC_CYTOPLASMIC_REGION, CREB_01, GOCC_MOTILE_CILIUM, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM

GO Biological Process (1): flagellated sperm motility (GO:0030317)

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

GO Cellular Component (6): nucleoplasm (GO:0005654), cilium (GO:0005929), axoneme (GO:0005930), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), nucleus (GO:0005634)

GO top-level categories

16 GO namespaces:

Category	Terms
cellular anatomical structure	3
cilium-dependent cell motility	1
cilium movement involved in cell motility	1
sperm motility	1
binding	1
nuclear lumen	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

GO term	NS	Evidence
axoneme	CC	direct assay
cilium	CC	direct assay
nucleoplasm	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 745 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFAP68	CFAP90	A4QMS7	632
CFAP68	CFAP77	Q6ZQR2	605
CFAP68	CFAP144	A6NL82	595
CFAP68	CFAP126	Q5VTH2	404
CFAP68	TSGA13	Q96PP4	390
CFAP68	SFT2D3	Q587I9	359
CFAP68	ZNG1B	Q8IUF1	358
CFAP68	TMEM234	Q8WY98	358
CFAP68	SCRN2	Q96FV2	357
CFAP68	ZNF727	A8MUV8	356
CFAP68	C10orf67	Q8IYJ2	353
CFAP68	ZNF273	Q14593	348
CFAP68	TMEM161A	Q9NX61	323
CFAP68	PHAX	Q9H814	319
CFAP68	RMDN2	Q96LZ7	313

IntAct

Human interaction partners of CFAP68 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 37 partners by confidence:

Partner	Interaction type	MIscore	Records
CATSPER1	physical association	0.560	5
PITX1	physical association	0.560	5
PLSCR4	physical association	0.560	5
PROP1	physical association	0.560	5
AGXT	physical association	0.560	3
ANKRD11	physical association	0.560	3
ARMC7	physical association	0.560	3
ATG9A	physical association	0.560	3
ATPAF2	physical association	0.560	3
BRK1	physical association	0.560	3
CNOT2	physical association	0.560	3
COL8A1	physical association	0.560	3
DMRT3	physical association	0.560	3
DTX2	physical association	0.560	3
FOXH1	physical association	0.560	3
FRS3	physical association	0.560	3
HGS	physical association	0.560	3
HOXA1	physical association	0.560	3
HOXC8	physical association	0.560	3
HR	physical association	0.560	3
KANK2	physical association	0.560	3
KLHL38	physical association	0.560	3
KRTAP13-2	physical association	0.560	3
MYO15B	physical association	0.560	3
OTX1	physical association	0.560	3
PATZ1	physical association	0.560	3
PEF1	physical association	0.560	3
PRKAB2	physical association	0.560	3
PRR35	physical association	0.560	3
SMYD1	physical association	0.560	3

Disease & clinical

Genetic variants

Variant evidence for CFAP68: 10 ClinVar records (0 pathogenic / likely pathogenic); 2 GWAS associations.

ClinVar

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

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

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 26 predictions of 208):

Position(s)	Effect	Δscore	Sites
11:111882366–111882367	acceptor_loss	1.0000	6
11:111882549	donor_gain	1.0000
11:111882599–111882600	donor_loss	1.0000	3
11:111882599	donor_loss	0.9900
11:111883769–111883770	acceptor_loss	0.9900	6
11:111882600	donor_loss	0.9800
11:111882355	acceptor_gain	0.9700
11:111881480	acceptor_gain	0.9600
11:111879606–111879607	donor_loss	0.9500	5
11:111881612	donor_gain	0.9000

AlphaMissense

215 missense substitutions predicted likely pathogenic (of 995 scored), across 59 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
W55	7	0.941	0.984
W73	7	0.935	0.969
F123	7	0.866	0.959
W41	7	0.850	0.926
F97	7	0.797	0.932
E61	7	0.784	0.919
N72	7	0.776	0.933
E39	7	0.754	0.835
D43	7	0.729	0.802
G71	6	0.819	0.937
K49	6	0.814	0.925
E129	6	0.734	0.788
H126	6	0.710	0.793
D79	6	0.693	0.768
H95	6	0.677	0.796
G54	5	0.847	0.918
F50	5	0.808	0.895
Y53	5	0.784	0.850
Q127	5	0.725	0.822
Y64	4	0.832	0.891

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

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

2 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	2.01e-07
Kidney Renal Clear Cell Carcinoma (validation)	favorable	5.33e-05

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

2 associations:

Study	Trait	p-value
GCST010244_161	Triglyceride levels	9e-16
GCST007564_18	Asthma or allergic disease (pleiotropy)	6e-11

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	2
Tretinoin	decreases expression	2
manganese chloride	increases abundance, decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Vorinostat	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Manganese	increases abundance, decreases expression	1
Methotrexate	decreases expression	1
Testosterone	decreases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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