C6orf163

Summary

C6orf163 (chromosome 6 open reading frame 163, HGNC:21403) is a protein-coding gene on chromosome 6q15, encoding Uncharacterized protein C6orf163 (Q5TEZ5).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 9 total — 1 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_001010868

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21403
Approved symbol	C6orf163
Name	chromosome 6 open reading frame 163
Location	6q15
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000203872
Ensembl biotype	protein_coding
Entrez	206412

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000369574, ENST00000388923, ENST00000608326, ENST00000608891

RefSeq mRNA: 1 — MANE Select: NM_001010868 NM_001010868

CCDS: CCDS55042

Canonical transcript exons

ENST00000388923 — 5 exons

Exon	Start	End
ENSE00001450362	87364961	87365463
ENSE00001504411	87348812	87348906
ENSE00001504412	87344813	87345247
ENSE00003507097	87356301	87356503
ENSE00003520869	87350394	87350501

Expression profiles

Bgee: expression breadth ubiquitous, 166 present calls, max score 86.17.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0222 / max 10.4151, expressed in 11 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68838	0.0188	11
204094	0.0034	2

Top tissues by expression

253 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	86.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.86	gold quality
right testis	UBERON:0004534	80.36	gold quality
left testis	UBERON:0004533	80.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.43	gold quality
testis	UBERON:0000473	78.03	gold quality
right uterine tube	UBERON:0001302	73.82	gold quality
tendon of biceps brachii	UBERON:0008188	72.93	gold quality
tendon	UBERON:0000043	71.48	gold quality
calcaneal tendon	UBERON:0003701	71.01	gold quality
apex of heart	UBERON:0002098	70.61	gold quality
right ovary	UBERON:0002118	70.11	gold quality
adrenal tissue	UBERON:0018303	69.77	gold quality
adenohypophysis	UBERON:0002196	69.62	gold quality
left ovary	UBERON:0002119	69.47	gold quality
buccal mucosa cell	CL:0002336	68.71	gold quality
pituitary gland	UBERON:0000007	68.28	gold quality
right atrium auricular region	UBERON:0006631	67.69	gold quality
ovary	UBERON:0000992	67.12	gold quality
heart left ventricle	UBERON:0002084	66.77	gold quality
cardiac atrium	UBERON:0002081	66.52	gold quality
oviduct epithelium	UBERON:0004804	66.38	gold quality
cardiac ventricle	UBERON:0002082	66.18	gold quality
bone marrow cell	CL:0002092	66.09	gold quality
left adrenal gland cortex	UBERON:0035825	65.62	gold quality
spleen	UBERON:0002106	65.51	gold quality
minor salivary gland	UBERON:0001830	65.44	gold quality
heart	UBERON:0000948	65.35	gold quality
transverse colon	UBERON:0001157	65.32	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	65.31	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.43

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm136	ENSMUSG00000071015
rattus_norvegicus	C5h6orf163	ENSRNOG00000009178

Protein

Protein identifiers

Uncharacterized protein C6orf163 — Q5TEZ5 (reviewed: Q5TEZ5)

All UniProt accessions (2): Q5TEZ5, V9GZ22

RefSeq proteins (1): NP_001010868* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR038927	C6orf163	Family

UniProt features (3 total): coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5TEZ5-F1	83.87	0.45

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): chr6q15, ZWANG_DOWN_BY_2ND_EGF_PULSE, GSE13485_CTRL_VS_DAY21_YF17D_VACCINE_PBMC_DN, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_DN, PULVER_FOREY_CELLCYCLE_PEAKING_LG1, GSE2770_TGFB_AND_IL4_VS_TGFB_AND_IL12_TREATED_ACT_CD4_TCELL_48H_UP, GSE4748_CYANOBACTERIUM_LPSLIKE_VS_LPS_AND_CYANOBACTERIUM_LPSLIKE_STIM_DC_3H_DN

GO Biological Process (1): biological_process (GO:0008150)

GO Molecular Function (1): molecular_function (GO:0003674)

GO Cellular Component (1): cellular_component (GO:0005575)

Protein interactions and networks

STRING

134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C6orf163	CFAP107	Q8N1D5	573
C6orf163	ZNF292	O60281	532
C6orf163	WFDC10B	Q8IUB3	518
C6orf163	SMIM8	Q96KF7	506
C6orf163	RWDD2A	Q9UIY3	480
C6orf163	CFAP206	Q8IYR0	447
C6orf163	UBE3D	Q7Z6J8	447
C6orf163	OR2H2	O95918	436
C6orf163	ZNF768	Q9H5H4	434
C6orf163	VCX2	Q9H322	432
C6orf163	GJB7	Q6PEY0	419
C6orf163	KRT37	O76014	415
C6orf163	NUDT18	Q6ZVK8	400
C6orf163	RIPPLY2	Q5TAB7	398
C6orf163	VCX3A	Q9NNX9	397

IntAct

0 interactions, top by confidence:

BioGRID (1): C6orf163 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IFG5, A0A480NP79, A0A974E306, A0AUT1, A0JLY1, A3KQH2, A4IJ21, A8I9E8, A8IRJ7, A8IUG5, E1BJL9, F1N7G5, P51950, Q08C53, Q0VC09, Q0VFZ6, Q17QH9, Q1RM03, Q2KI00, Q2KIQ2, Q3TGF2, Q3TVW5, Q3V037, Q4R698, Q4R7T8, Q4R8Y5, Q502W7, Q5RE49, Q5TEZ5, Q5U4F3, Q5XIN9, Q5XIR6, Q61884, Q6AXQ8, Q6AYL4, Q6DV01, Q6PBA8, Q6ZN84, Q8BRC6, Q8CDN8

Diamond homologs: Q2TBK0, Q3V037, Q5TEZ5, Q95JY7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
3062883	GRCh37/hg19 6q15(chr6:88039867-88305895)x1	Pathogenic
148698	GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1	Likely pathogenic

SpliceAI

658 predictions. Top by Δscore:

Variant	Effect	Δscore
6:87356481:G:GT	donor_gain	1.0000
6:87364959:A:AG	acceptor_gain	1.0000
6:87364960:G:GG	acceptor_gain	1.0000
6:87345246:AGGTA:A	donor_loss	0.9900
6:87345247:GGTA:G	donor_loss	0.9900
6:87345248:GT:G	donor_loss	0.9900
6:87350135:G:GG	donor_gain	0.9900
6:87356300:GGAA:G	acceptor_gain	0.9900
6:87364956:TGTA:T	acceptor_loss	0.9900
6:87364957:GTA:G	acceptor_loss	0.9900
6:87364958:TA:T	acceptor_loss	0.9900
6:87364959:A:AC	acceptor_loss	0.9900
6:87364960:G:GA	acceptor_loss	0.9900
6:87364960:GC:G	acceptor_gain	0.9900
6:87364960:GCA:G	acceptor_gain	0.9900
6:87364960:GCAAA:G	acceptor_gain	0.9900
6:87345244:CTAG:C	donor_gain	0.9800
6:87345248:G:GG	donor_gain	0.9800
6:87345249:T:G	donor_loss	0.9800
6:87356295:CTTCA:C	acceptor_loss	0.9800
6:87356296:TTCA:T	acceptor_loss	0.9800
6:87356297:TCA:T	acceptor_loss	0.9800
6:87356298:CA:C	acceptor_loss	0.9800
6:87356299:A:AG	acceptor_gain	0.9800
6:87356300:G:GA	acceptor_loss	0.9800
6:87356300:G:GG	acceptor_gain	0.9800
6:87364960:GCAA:G	acceptor_gain	0.9800
6:87350481:G:GT	donor_gain	0.9700
6:87345243:ACTAG:A	donor_gain	0.9600
6:87350134:A:AG	donor_gain	0.9600

AlphaMissense

2225 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:87365325:T:C	F307L	0.983
6:87365327:T:A	F307L	0.983
6:87365327:T:G	F307L	0.983
6:87356439:G:C	A164P	0.982
6:87356383:G:C	R145P	0.975
6:87350394:G:C	A82P	0.970
6:87365271:T:C	F289L	0.970
6:87365273:T:A	F289L	0.970
6:87365273:T:G	F289L	0.970
6:87356451:G:C	A168P	0.969
6:87350415:G:C	A89P	0.965
6:87365239:T:C	L278P	0.965
6:87365272:T:C	F289S	0.964
6:87350439:G:C	A97P	0.961
6:87350427:G:C	A93P	0.958
6:87365251:T:C	L282S	0.957
6:87345242:T:A	I48K	0.954
6:87365295:T:C	F297L	0.954
6:87365297:T:A	F297L	0.954
6:87365297:T:G	F297L	0.954
6:87365264:G:C	R286S	0.952
6:87365264:G:T	R286S	0.952
6:87345127:T:C	F10L	0.950
6:87345129:T:A	F10L	0.950
6:87345129:T:G	F10L	0.950
6:87365332:T:C	L309P	0.950
6:87356373:G:C	A142P	0.949
6:87348883:G:C	A74P	0.947
6:87345223:T:C	F42L	0.945
6:87345225:T:A	F42L	0.945

dbSNP variants (sampled 300 via entrez): RS1000627572 (6:87345969 A>C), RS1000900952 (6:87346214 T>C), RS1001008122 (6:87360850 G>A), RS1001165892 (6:87353441 AT>A), RS1001186237 (6:87352233 C>G), RS1001254433 (6:87362167 G>A,C,T), RS1001261350 (6:87353582 GA>G,GAA), RS1001289908 (6:87348673 A>G,T), RS1001493282 (6:87355029 T>A), RS1001587763 (6:87359962 C>A,G), RS1002344367 (6:87347147 C>G,T), RS1002442181 (6:87353602 A>C,G), RS1002904827 (6:87353395 A>C,G), RS1002929649 (6:87363616 A>G), RS1002980615 (6:87363398 A>T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003091_4	Depressive episodes in bipolar disorder	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007704	depressive episode measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	increases expression	1
Benzo(a)pyrene	affects methylation	1
Nickel	decreases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.