C7orf78

Summary

C7orf78 (chromosome 7 open reading frame 78, HGNC:55185) is a protein-coding gene on chromosome 7p21.3, encoding Putative uncharacterized protein C7orf78 (A0A1B0GVB3).

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001386514

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55185
Approved symbol	C7orf78
Name	chromosome 7 open reading frame 78
Location	7p21.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000226690
Ensembl biotype	protein_coding
Entrez	102725191

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding_CDS_not_defined, 3 protein_coding

ENST00000418428, ENST00000424453, ENST00000443874, ENST00000635746, ENST00000636804, ENST00000641054

RefSeq mRNA: 3 — MANE Select: NM_001386514 NM_001386512, NM_001386513, NM_001386514

CCDS: CCDS94055, CCDS94056

Canonical transcript exons

ENST00000636804 — 6 exons

Exon	Start	End
ENSE00003794045	12522971	12523426
ENSE00003796958	12504441	12504546
ENSE00003797731	12540920	12541270
ENSE00003799365	12525820	12525904
ENSE00003800702	12531013	12531092
ENSE00003800741	12528902	12529044

Expression profiles

Bgee: expression breadth broad, 69 present calls, max score 83.34.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	83.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	80.22	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.45	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	77.29	gold quality
fallopian tube	UBERON:0003889	67.21	gold quality
quadriceps femoris	UBERON:0001377	64.14	gold quality
endometrium	UBERON:0001295	63.22	gold quality
cerebellar vermis	UBERON:0004720	63.05	gold quality
metanephros cortex	UBERON:0010533	60.33	gold quality
thymus	UBERON:0002370	59.34	silver quality
corpus callosum	UBERON:0002336	54.15	gold quality
kidney	UBERON:0002113	52.89	gold quality
granulocyte	CL:0000094	51.82	gold quality
adult mammalian kidney	UBERON:0000082	51.28	gold quality
right lung	UBERON:0002167	50.29	gold quality
right testis	UBERON:0004534	49.98	gold quality
testis	UBERON:0000473	49.73	gold quality
left testis	UBERON:0004533	48.79	gold quality
placenta	UBERON:0001987	48.65	gold quality
cortex of kidney	UBERON:0001225	48.15	gold quality
left uterine tube	UBERON:0001303	46.45	gold quality
duodenum	UBERON:0002114	45.99	gold quality
rectum	UBERON:0001052	43.85	gold quality
hypothalamus	UBERON:0001898	43.16	gold quality
sural nerve	UBERON:0015488	42.14	gold quality
caudate nucleus	UBERON:0001873	41.84	gold quality
lung	UBERON:0002048	41.79	gold quality
endocervix	UBERON:0000458	41.69	gold quality
stromal cell of endometrium	CL:0002255	39.97	gold quality
islet of Langerhans	UBERON:0000006	39.53	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-10287	yes	25.32
E-ANND-3	yes	9.06

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Putative uncharacterized protein C7orf78 — A0A1B0GVB3 (reviewed: A0A1B0GVB3)

All UniProt accessions (2): A0A1B0GUR6, A0A1B0GVB3

Isoforms (2)

UniProt ID	Names	Canonical?
A0A1B0GVB3-1	1	yes
A0A1B0GVB3-2	2

RefSeq proteins (3): NP_001373441, NP_001373442, NP_001373443* (*=MANE)

Domains & families (InterPro)

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVB3-F1	65.14	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): HMGA1_TARGET_GENES, DESCARTES_MAIN_FETAL_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_CEREBRUM_ASTROCYTES, DESCARTES_FETAL_LUNG_CILIATED_EPITHELIAL_CELLS, DESCARTES_FETAL_STOMACH_CILIATED_EPITHELIAL_CELLS, chr7p21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVB3, A0A1B0GVH6, A2RRY8, A4IGV6, A6NHR8, B3DHS1, E1B9I5, O74317, O95561, P03319, P03320, P0C9Z5, P0C9Z6, P10260, P36353, P40744, P40745, Q06616, Q09280, Q09424, Q2KIL1, Q2KIR0, Q32KT7, Q32LB6, Q3T028, Q3TTI8, Q496A3, Q5NC83, Q5SQS8, Q5XIU7, Q68FQ8, Q6DFB0, Q6ZNM6, Q6ZV65, Q811V6, Q8IWA6, Q8N9R6, Q8R0E5, Q8TAL5, Q8WTQ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1700 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:12528987:G:C	W210C	0.967
7:12528987:G:T	W210C	0.967
7:12523418:T:C	F151L	0.964
7:12523420:T:A	F151L	0.964
7:12523420:T:G	F151L	0.964
7:12528985:T:A	W210R	0.960
7:12528985:T:C	W210R	0.960
7:12523160:T:C	F65L	0.952
7:12523162:T:A	F65L	0.952
7:12523162:T:G	F65L	0.952
7:12523325:T:C	F120L	0.950
7:12523327:T:A	F120L	0.950
7:12523327:T:G	F120L	0.950
7:12531056:G:C	R244P	0.948
7:12528955:T:C	F200L	0.939
7:12528957:T:A	F200L	0.939
7:12528957:T:G	F200L	0.939
7:12529018:T:A	W221R	0.935
7:12529018:T:C	W221R	0.935
7:12523361:T:C	F132L	0.924
7:12523363:T:A	F132L	0.924
7:12523363:T:G	F132L	0.924
7:12523313:T:C	F116L	0.918
7:12523315:T:A	F116L	0.918
7:12523315:T:G	F116L	0.918
7:12525841:T:C	F161L	0.906
7:12525843:T:A	F161L	0.906
7:12525843:T:G	F161L	0.906
7:12523422:G:C	R152P	0.902
7:12531021:A:C	R232S	0.886

dbSNP variants (sampled 300 via entrez): RS1000006852 (7:12532697 T>C), RS1000021392 (7:12505417 C>G,T), RS1000109111 (7:12488243 C>G), RS1000302360 (7:12536519 C>G,T), RS1000325678 (7:12507345 C>A), RS1000359832 (7:12495386 G>C), RS1000380768 (7:12522123 G>T), RS1000543038 (7:12488543 G>A,C,T), RS1000598897 (7:12513128 A>G), RS1000628836 (7:12520792 G>A,C), RS1000639348 (7:12503267 A>G,T), RS1000702597 (7:12518032 G>A), RS1000753385 (7:12491740 A>T), RS1000859582 (7:12500774 C>G), RS1000876963 (7:12515878 A>G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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