SCAND1

Summary

SCAND1 (SCAN domain containing 1, HGNC:10566) is a protein-coding gene on chromosome 20q11.23, encoding SCAN domain-containing protein 1 (P57086). May regulate transcriptional activity.

This gene encodes a SCAN box domain-containing protein. The SCAN domain is a highly conserved, leucine-rich motif of approximately 60 aa originally found within a subfamily of zinc finger proteins. This gene belongs to a family of genes that encode an isolated SCAN domain, but no zinc finger motif. This protein binds to and may regulate the function of the transcription factor myeloid zinc finger 1B. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 51282 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 26 total
• GTEx eGene: eQTL in 19 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.95 (unconstrained)
• MANE Select transcript: NM_033630

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10566
Approved symbol	SCAND1
Name	SCAN domain containing 1
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Aliases	SDP1, RAZ1
Ensembl gene	ENSG00000171222
Ensembl biotype	protein_coding
OMIM	610416
Entrez	51282

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

MANE Select: ENST00000305978

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

ENST00000305978, ENST00000373991, ENST00000615116, ENST00000857192, ENST00001133985

RefSeq mRNA: 3 — MANE Select: NM_033630 NM_001385710, NM_016558, NM_033630

CCDS: CCDS13269

Canonical transcript exons

ENST00000305978 — 2 exons

Exon	Start	End
ENSE00001210841	35954448	35954502
ENSE00003913930	35953624	35954339

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 96.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 84.4713 / max 429.0524, expressed in 1825 samples.

Highest expression (Bgee): mucosa of transverse colon, olfactory segment of nasal mucosa, adrenal gland, adrenal gland cortex, adenohypophysis.

Genetic regulation across tissues (GTEx eQTL / sQTL)

SCAND1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 19 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

19 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Aorta	eqtl	1.3e-21	+0.34	20:35944075:T:A
Cells Cultured fibroblasts	eqtl	1.3e-15	-0.27	20:35865440:T:A
Artery Tibial	eqtl	4.5e-12	+0.15	20:35932516:T:C
Cells EBV-transformed lymphocytes	eqtl	1.4e-10	-0.41	20:35967956:C:T
Whole Blood	eqtl	6.0e-09	-0.15	20:35959841:T:C
Lung	eqtl	4.6e-05	-0.18	20:35910629:T:C
Skin Not Sun Exposed Suprapubic	eqtl	8.2e-05	-0.14	20:35972604:G:A
Muscle Skeletal	eqtl	1.2e-03	+0.18	20:35958114:C:T
Pancreas	eqtl	1.6e-03	-0.21	20:35797042:C:G
Heart Left Ventricle	eqtl	1.9e-03	+0.24	20:35742661:G:C
Thyroid	eqtl	5.3e-03	-0.18	20:36627073:C:T
Adipose Visceral Omentum	eqtl	6.6e-03	-0.13	20:35967956:C:T
Brain Frontal Cortex BA9	eqtl	6.9e-03	-0.42	20:36338300:G:A
Brain Nucleus accumbens basal ganglia	eqtl	1.2e-02	-0.19	20:35669362:G:T
Brain Cerebellar Hemisphere	eqtl	1.6e-02	-0.16	20:35949238:G:A
Brain Hippocampus	eqtl	1.9e-02	-0.58	20:36955601:C:T
Brain Anterior cingulate cortex BA24	eqtl	2.0e-02	-0.19	20:35578178:G:C
Skin Sun Exposed Lower leg	eqtl	3.8e-02	-0.13	20:36677463:G:A
Adipose Subcutaneous	eqtl	4.6e-02	+0.24	20:35475050:T:C

FANTOM5 promoters

8 alternative TSS:

Promoter ID	TPM avg	Samples expressed
187101	41.4926	1821
187099	37.2198	1818
187098	2.2224	1170
187102	1.6675	1127
187103	0.7225	458
187100	0.7189	437
187104	0.3922	56
187097	0.0355	6

Top tissues by expression

showing 100 of 291 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	96.66	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.61	gold quality
right adrenal gland	UBERON:0001233	95.77	gold quality
right adrenal gland cortex	UBERON:0035827	95.60	gold quality
left adrenal gland cortex	UBERON:0035825	95.56	gold quality
left adrenal gland	UBERON:0001234	95.51	gold quality
adenohypophysis	UBERON:0002196	95.45	gold quality
right lobe of liver	UBERON:0001114	95.33	gold quality
apex of heart	UBERON:0002098	95.04	gold quality
right uterine tube	UBERON:0001302	95.01	gold quality
adrenal cortex	UBERON:0001235	94.97	gold quality
metanephros cortex	UBERON:0010533	94.73	gold quality
mucosa of stomach	UBERON:0001199	94.68	gold quality
granulocyte	CL:0000094	94.53	gold quality
left coronary artery	UBERON:0001626	94.44	gold quality
lower esophagus mucosa	UBERON:0035834	94.38	gold quality
lower esophagus	UBERON:0013473	94.26	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.26	gold quality
body of stomach	UBERON:0001161	94.21	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	94.20	gold quality
pituitary gland	UBERON:0000007	94.12	gold quality
coronary artery	UBERON:0001621	94.11	gold quality
left uterine tube	UBERON:0001303	94.04	gold quality
ascending aorta	UBERON:0001496	94.02	gold quality
thoracic aorta	UBERON:0001515	94.01	gold quality
anterior cingulate cortex	UBERON:0009835	93.97	gold quality
cingulate cortex	UBERON:0003027	93.90	gold quality
monocyte	CL:0000576	93.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.77	gold quality
transverse colon	UBERON:0001157	93.69	gold quality
body of pancreas	UBERON:0001150	93.65	gold quality
omental fat pad	UBERON:0010414	93.65	gold quality
mononuclear cell	CL:0000842	93.63	gold quality
left lobe of thyroid gland	UBERON:0001120	93.62	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.62	gold quality
spleen	UBERON:0002106	93.59	gold quality
peritoneum	UBERON:0002358	93.59	gold quality
leukocyte	CL:0000738	93.53	gold quality
aorta	UBERON:0000947	93.50	gold quality
skin of abdomen	UBERON:0001416	93.50	gold quality
amygdala	UBERON:0001876	93.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.47	gold quality
adipose tissue of abdominal region	UBERON:0007808	93.44	gold quality
gastrocnemius	UBERON:0001388	93.39	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.39	gold quality
putamen	UBERON:0001874	93.38	gold quality
descending thoracic aorta	UBERON:0002345	93.37	gold quality
endocervix	UBERON:0000458	93.36	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.36	gold quality
adult mammalian kidney	UBERON:0000082	93.34	gold quality
right lobe of thyroid gland	UBERON:0001119	93.29	gold quality
right ovary	UBERON:0002118	93.26	gold quality
minor salivary gland	UBERON:0001830	93.25	gold quality
popliteal artery	UBERON:0002250	93.21	gold quality
skin of leg	UBERON:0001511	93.20	gold quality
caudate nucleus	UBERON:0001873	93.20	gold quality
tibial artery	UBERON:0007610	93.20	gold quality
left ovary	UBERON:0002119	93.19	gold quality
nucleus accumbens	UBERON:0001882	93.18	gold quality
nasal cavity mucosa	UBERON:0001826	93.16	gold quality
ectocervix	UBERON:0012249	93.05	gold quality
right atrium auricular region	UBERON:0006631	93.02	gold quality
right frontal lobe	UBERON:0002810	92.94	gold quality
prefrontal cortex	UBERON:0000451	92.91	gold quality
body of uterus	UBERON:0009853	92.88	gold quality
mouth mucosa	UBERON:0003729	92.86	gold quality
right testis	UBERON:0004534	92.83	gold quality
esophagus	UBERON:0001043	92.73	gold quality
right coronary artery	UBERON:0001625	92.57	gold quality
spinal cord	UBERON:0002240	92.54	gold quality
right lung	UBERON:0002167	92.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.47	gold quality
adrenal gland	UBERON:0002369	92.46	gold quality
esophagus mucosa	UBERON:0002469	92.40	gold quality
left testis	UBERON:0004533	92.38	gold quality
corpus epididymis	UBERON:0004359	92.27	gold quality
heart left ventricle	UBERON:0002084	92.24	gold quality
thyroid gland	UBERON:0002046	92.16	gold quality
cardiac ventricle	UBERON:0002082	92.01	gold quality
tibial nerve	UBERON:0001323	91.97	gold quality
hypothalamus	UBERON:0001898	91.97	gold quality
zone of skin	UBERON:0000014	91.93	gold quality
small intestine	UBERON:0002108	91.90	gold quality
adipose tissue	UBERON:0001013	91.78	gold quality
gingiva	UBERON:0001828	91.77	gold quality
saliva-secreting gland	UBERON:0001044	91.75	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.71	gold quality
palpebral conjunctiva	UBERON:0001812	91.67	gold quality
colon	UBERON:0001155	91.66	gold quality
neocortex	UBERON:0001950	91.63	gold quality
muscle of leg	UBERON:0001383	91.56	gold quality
fundus of stomach	UBERON:0001160	91.42	gold quality
liver	UBERON:0002107	91.40	gold quality
forebrain	UBERON:0001890	91.33	gold quality
frontal cortex	UBERON:0001870	91.32	gold quality
frontal lobe	UBERON:0016525	91.32	gold quality
upper lobe of lung	UBERON:0008948	91.27	gold quality
large intestine	UBERON:0000059	91.23	gold quality
upper lobe of left lung	UBERON:0008952	91.22	gold quality
epithelium of bronchus	UBERON:0002031	91.20	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-29	no	134.26
E-CURD-120	no	28.95
E-MTAB-8410	no	3.59
E-GEOD-125970	no	3.09
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Pituitary gland	tissue	84.0
Choroid plexus	tissue	79.9
Hippocampal formation	tissue	78.6
Superior colliculi	tissue	78.3
Thalamus	tissue	76.2
Pons	tissue	75.8
Cerebral cortex	tissue	68.4
Somatosensory cortex	tissue	68.4
Hypothalamus	tissue	68.0
Basal ganglia	tissue	65.3
Locus coeruleus	tissue	64.3
Midbrain	tissue	63.7
Motor cortex	tissue	62.8
Occipital cortex	tissue	62.4
Medulla oblongata	tissue	61.8
Septum	tissue	61.6
Hippocampus	tissue	60.9
Putamen	tissue	60.3
Spinal cord	tissue	59.3
Substantia nigra	tissue	59.0
Prefrontal cortex	tissue	57.6
Vagina	tissue	57.1
Nucleus accumbens	tissue	56.5
Ventral forebrain	tissue	56.3
Retrosplenial and cingulate cortex	tissue	55.0
Temporal cortex	tissue	55.0
Entorhinal cortex	tissue	54.3
Periaqueductal gray	tissue	53.5
Postcentral gyrus	tissue	53.4
Retrosplenial cortex	tissue	52.8
Cerebellum	tissue	51.7
Insular cortex	tissue	48.6
Amygdala	tissue	47.7
Olfactory bulb	tissue	47.6
Bone marrow	tissue	41.8
Skeletal muscle	tissue	40.8
Duodenum	tissue	33.3
Corpus callosum	tissue	32.5
Stomach 1	tissue	30.6
Adipose tissue	tissue	29.3
Salivary gland	tissue	26.4
Small intestine	tissue	26.2
Spleen	tissue	24.5
Pancreas	tissue	22.2
Adrenal gland	tissue	21.7
Liver	tissue	20.6
Kidney	tissue	20.3
Colon	tissue	19.8
Appendix	tissue	19.0
Prostate	tissue	18.8
Ovary	tissue	14.9
Skin 1	tissue	13.6
Lymph node	tissue	12.9
Lung	tissue	12.2
Seminal vesicle	tissue	10.5
Endometrium 1	tissue	10.2
Thymus	tissue	9.6
Parathyroid gland	tissue	9.1
Placenta	tissue	8.9
Testis	tissue	8.8

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Nucleus ambiguus (91.3), Blood vessel (82.5), Ventral hippocampus (78.6), Lateral hypothalamic area (75.1), Dorsal hippocampus (73.0).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets:

Target	Regulation
ZNF202	Unknown

miRNA regulators (miRDB)

Targeting SCAND1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

1 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-335-3P	99.93	73.36	4958

Functional genomics

gnomAD constraint: pLI 0.00108, LOEUF 1.95, missense Z -2.06 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000305978 — one region, missense o/e 1.17.

Literature-anchored findings (GeneRIF, showing 2)

• This result indicates that NY-REN-21 can function either as a homodimer or as a heterodimer with SCAND1. (PMID:16540086)
• SCAND1 Reverses Epithelial-to-Mesenchymal Transition (EMT) and Suppresses Prostate Cancer Growth and Migration. (PMID:36552758)

Cross-species orthologs

11 orthologs

Organism	Symbol	Gene ID
danio_rerio	plagx	ENSDARG00000036855
danio_rerio	ovol1a	ENSDARG00000076472
danio_rerio	plagl2	ENSDARG00000076657
danio_rerio	ovol1b	ENSDARG00000078256
mus_musculus	Scand1	ENSMUSG00000046229
rattus_norvegicus	Scand1	ENSRNOG00000019987
drosophila_melanogaster	hb	FBGN0001180
drosophila_melanogaster	CG12391	FBGN0033581
caenorhabditis_elegans		WBGENE00001824
caenorhabditis_elegans		WBGENE00003033
caenorhabditis_elegans		WBGENE00012385

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), ZNF174 (ENSG00000103343), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1343132) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 3 distinct phenotype terms.

Mouse phenotype (MP)	Records
hyperactivity	1
increased circulating creatinine level	1
decreased red blood cell distribution width	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
Gorilla gorilla gorilla	A1YEW3	100.0%	Diamond
Pan paniscus	A1YG31	100.0%	Diamond
Pan troglodytes	A2T715	100.0%	Diamond
Pongo pygmaeus	A2T7M0	89.4%	Diamond
Bos taurus	Q32PG5	71.9%	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
CNBD2	protein-coding	140894
PHF20	protein-coding	51230
NORAD	ncRNA	647979
EPB41L1	protein-coding	2036

Protein

Protein identifiers

SCAN domain-containing protein 1 — P57086 (reviewed: P57086)

All UniProt accessions (1): P57086

UniProt curated annotations — full annotation on UniProt →

Function. May regulate transcriptional activity.

Subunit / interactions. Interacts with ZNF202.

Subcellular location. Nucleus.

RefSeq proteins (3): NP_001372639, NP_057642, NP_361012* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003309	SCAN_dom	Domain
IPR038269	SCAN_sf	Homologous_superfamily
IPR050916	SCAN-C2H2_zinc_finger	Family

Pfam: PF02023

UniProt features (4 total): chain 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P57086-F1	72.37	0.34

Human Protein Atlas

Protein class: Predicted intracellular proteins, Plasma proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nuclear speckles

Antibody reliability (HPA): IF approved

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: 96 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, AREB6_01, HUMMERICH_MALIGNANT_SKIN_TUMOR_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, MODULE_123, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, MODULE_98, chr20q11, DANG_BOUND_BY_MYC, MODULE_114, BENPORATH_MYC_MAX_TARGETS, LU_EZH2_TARGETS_UP, HUANG_GATA2_TARGETS_UP

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

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

2 GO namespaces:

Category	Terms
binding	1
intracellular membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 2 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 1,040 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SCAND1	ZSCAN2	Q7Z7L9	551
SCAND1	CNBD2	Q96M20	498
SCAND1	HSF5	Q4G112	456
SCAND1	ZNF322	Q6U7Q0	444
SCAND1	WDR73	Q6P4I2	439
SCAND1	THNSL1	Q8IYQ7	439
SCAND1	CCDC85B	Q15834	414
SCAND1	DENND11	A4D1U4	403
SCAND1	CDC37	Q16543	397
SCAND1	RADIL	Q96JH8	383
SCAND1	UTP3	Q9NQZ2	375
SCAND1	MIEN1	Q9BRT3	374
SCAND1	HSPA4L	O95757	370
SCAND1	HSPA4	P34932	370
SCAND1	HSPA13	P48723	366

IntAct

Human interaction partners of SCAND1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 57 partners by confidence:

Partner	Interaction type	MIscore	Records
PGBD1	physical association	0.940	11
ZKSCAN4	physical association	0.870	7
ZNF24	physical association	0.850	6
ZNF263	physical association	0.800	4
ZSCAN22	physical association	0.760	7
ZSCAN32	physical association	0.750	2
ZNF394	association	0.740	12
ZNF397	physical association	0.740	5
ZSCAN18	physical association	0.740	4
ZNF449	physical association	0.720	8
GORASP2	physical association	0.720	6
ZNF165	physical association	0.670	11
ZKSCAN7	physical association	0.670	10
ZSCAN23	physical association	0.670	8
ZNF396	physical association	0.670	5
ZNF213	physical association	0.670	3
ZNF496	physical association	0.670	3
ZNF202	physical association	0.660	2
ZNF446	physical association	0.560	5
ZSCAN12	physical association	0.560	5
AGTRAP	physical association	0.560	3
APH1A	physical association	0.560	3
CALCOCO2	physical association	0.560	3
CCDC51	physical association	0.560	3
DGAT2L6	physical association	0.560	3
GOLGA6L9	physical association	0.560	3
KRT40	physical association	0.560	3
LHX4	physical association	0.560	3
NDUFB5	physical association	0.560	3
PICK1	physical association	0.560	3

BioGRID (118 interactions; top human partners by supporting records): PGBD1 (Two-hybrid; 5 records), ZNF24 (Affinity Capture-MS; 5 records), ZNF263 (Two-hybrid; 5 records), ZNF397 (Affinity Capture-MS; 5 records), ZSCAN32 (Affinity Capture-MS; 5 records), ZKSCAN4 (Two-hybrid; 4 records), ZNF396 (Affinity Capture-MS; 4 records), ZSCAN20 (Affinity Capture-MS; 4 records), MZF1 (Two-hybrid; 3 records), ZKSCAN7 (Two-hybrid; 3 records), ZNF394 (Affinity Capture-MS; 3 records), ZNF444 (Affinity Capture-MS; 3 records), ZNF483 (Affinity Capture-MS; 3 records), ZSCAN22 (Affinity Capture-MS; 3 records), GORASP2 (Two-hybrid; 2 records)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
SCAND1	“up-regulates activity”	MZF1	binding

Disease & clinical

Genetic variants

Variant evidence for SCAND1: 26 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	1
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 19 predictions of 54):

Position(s)	Effect	Δscore	Sites
20:35954446–35954447	donor_loss	0.9400	5
20:35954446	donor_loss	0.8700
20:35954350	acceptor_gain	0.8200
20:35954375	acceptor_gain	0.7400
20:35954346	acceptor_gain	0.7300
20:35954340–35954341	acceptor_loss	0.7200	6
20:35954355	acceptor_gain	0.6600
20:35954448	donor_loss	0.6500
20:35954342	acceptor_loss	0.6400
20:35954445	donor_loss	0.6200

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
Pancreatic Adenocarcinoma (TCGA)	favorable	0.000932

Disease associations

OMIM: gene MIM:610416 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST010002_341	Refractive error	2e-20
GCST004067_150	Hip circumference adjusted for BMI	6e-12
GCST004067_196	Hip circumference adjusted for BMI	1e-7
GCST004067_31	Hip circumference adjusted for BMI	8e-7

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression	2
Air Pollutants	decreases expression, affects expression, increases abundance	2
Estradiol	affects binding, increases reaction, decreases expression	2
triphenyl phosphate	affects expression	1
arsenite	increases reaction, affects binding	1
ICG 001	decreases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
Decitabine	increases expression	1
Caffeine	increases phosphorylation	1
Dimethylnitrosamine	decreases expression	1
Hydrogen Peroxide	affects expression	1
Methotrexate	decreases expression	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Phenol	decreases expression	1
Vitamin K 3	affects expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2EN	Abcam HeLa SCAND1 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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