Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	317761
Gene name	Chromosome 14 open reading frame 39
Gene symbol	C14orf39
Synonyms (NCBI Gene)	POF18SPGF52Six6os1
Chromosome	14
Chromosome location	14q23.1

18 Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023303	hsa-miR-122-5p	Microarray	17612493
MIRT833204	hsa-miR-1276	CLIP-seq
MIRT833205	hsa-miR-3942-5p	CLIP-seq
MIRT833206	hsa-miR-4274	CLIP-seq
MIRT833207	hsa-miR-4307	CLIP-seq
MIRT833208	hsa-miR-4311	CLIP-seq
MIRT833209	hsa-miR-4422	CLIP-seq
MIRT833210	hsa-miR-4503	CLIP-seq
MIRT833211	hsa-miR-4662a-5p	CLIP-seq
MIRT833212	hsa-miR-4703-5p	CLIP-seq
MIRT833213	hsa-miR-4775	CLIP-seq
MIRT833214	hsa-miR-488	CLIP-seq
MIRT833215	hsa-miR-583	CLIP-seq
MIRT833216	hsa-miR-590-3p	CLIP-seq
MIRT1946783	hsa-miR-2116	CLIP-seq
MIRT1946784	hsa-miR-4677-5p	CLIP-seq
MIRT2185000	hsa-miR-4698	CLIP-seq
MIRT2185001	hsa-miR-548p	CLIP-seq

24 Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000801	Component	Central element	IBA
GO:0000801	Component	Central element	IEA
GO:0000801	Component	Central element	ISS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005694	Component	Chromosome	IEA
GO:0005694	Component	Chromosome	ISS
GO:0006310	Process	DNA recombination	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IMP	33508233
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IBA
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IEA
GO:0010705	Process	Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0048477	Process	Oogenesis	IBA
GO:0048477	Process	Oogenesis	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	NAS	15703187
GO:0051321	Process	Meiotic cell cycle	IEA

MIM	HGNC	e!Ensembl
617307	19849	ENSG00000179008

Q8N1H7

Protein name

Protein SIX6OS1 (Six6 opposite strand transcript 1)

Protein function

Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossove

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15676	S6OS1	31 → 587	Six6 opposite strand transcript 1 family	Family

Tissue specificity

TISSUE SPECIFICITY: Highest expression in retina, skeletal muscle, testis and colon. {ECO:0000269|PubMed:15703187, ECO:0000269|PubMed:33508233}.

Sequence

MNDSLFVSLDRLLLEFVFQYEQDISTKEEMIQRINKCCEDIKENKVTICRIHETINATDE
EIDHYCKHSEEIKDNCRNWKPTCDVFRKHEDYMQDQFTVYQGTVEKDKEMYHDYICQYKE
VLKQYQLKYSETPFSREYYEKKREHEEIQSRVLACTEQLKMNETIFMKFRVPAPFPSLTK
WTLNIVNLRCETQDILKHASNLTKSSSELKKEVDEMEIEINYLNQQISRHNETKALSETL
EEKNKNTENRKELKERIFGKDEHVLTLNKTQSSQLFLPYESQKLVRPIKMHSSEPRVADI
KEESSAKQSKLANIDFRQKENDTQIFNDSAVDNHSKCSHITTITSSQKFMQVRLLTPQKQ
SNSNQWSEKGDKDAEYGDKGTVRQVRESKCTSQAIYTEHFGKSVENDSDEVEERAENFPR
TSEIPIFLGTPKAVKAPESLEKIKFPKTPPFEINRNRNAVPEVQTEKESPGLSFLMSYTS
RSPGLNLFDSSVFDTEISSDQFNEHYSARNLNPLSSEQEIGNLLEKPEGEDGFTFSFPSD
TSTHTFGAGKDDFSFPFSFGQGQNSIPSSSLKGFSSSSQNTTQFTFF

Sequence length

587

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Azoospermia	Pathogenic	rs1406759691	RCV001797167	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Non-obstructive azoospermia	Pathogenic	rs1891315296, rs997282049, rs1406759691	RCV001530958 RCV001530957 RCV001530956	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure 18	Likely pathogenic; Pathogenic	rs748322684, rs1406759691	RCV005412147 RCV001293258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spermatogenic failure 52	Likely pathogenic; Pathogenic	rs748322684, rs1891315296, rs997282049, rs1406759691	RCV005412147 RCV001293260 RCV001293259 RCV001293257	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (19)
ANOPHTHALMIA-MICROPHTHALMIA SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40645996	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C14orf39-related disorder	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMATOUS OPTIC DISC, MACULAR ATROPHY, CHORIORETINOPATHY SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	35841873	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	30054594, 31959993, 32514122, 34594039, 35841873, 39024449, 39789286	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	33830181	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited primary ovarian failure	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION	—	Disgenet	33508233	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 3	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NYSTAGMUS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	22419738, 22570617, 25173105, 26752265, 29452408, 29891935, 33627673, 37386247, 38382466, 39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREMATURE OVARIAN FAILURE, FAMILIAL	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOSCHISIS	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR AZOOSPERMIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (8)
Azoospermia	Azoospermia	Pubtator	33508233, 35172124	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36689258	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26305337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	30054594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22570617		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASCAT_DG	26752265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	33508233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY	OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STAG3	4	["Male infertility single gene azoospermia","Premature ovarian failure","Spermatogenic failure","Testicular azoospermia"]	[]	11	["Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Premature ovarian failure)","ClinVar (Premature ovarian failure)","HPO (Premature ovarian failure)","GWAS catalog (Premature ovarian failure)","Disgenet (Spermatogenic failure)","GWAS catalog (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
MEIOB	4	["Azoospermia","Male infertility single gene azoospermia","Premature ovarian failure","Spermatogenic failure"]	[]	9	["Disgenet (Azoospermia)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Premature ovarian failure)","ClinVar (Premature ovarian failure)","HPO (Premature ovarian failure)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)"]
TERB1	4	["Azoospermia","Male infertility single gene azoospermia","Spermatogenic failure","Testicular azoospermia"]	[]	7	["Disgenet (Azoospermia)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
MSH5	5	["Azoospermia","Male infertility single gene azoospermia","Premature ovarian failure","Spermatogenic failure","Testicular azoospermia"]	[]	12	["Disgenet (Azoospermia)","Disgenet (Male infertility single gene azoospermia)","Orphanet (Male infertility single gene azoospermia)","Disgenet (Premature ovarian failure)","ClinVar (Premature ovarian failure)","HPO (Premature ovarian failure)","GWAS catalog (Premature ovarian failure)","Disgenet (Spermatogenic failure)","GWAS catalog (Spermatogenic failure)","HPO (Spermatogenic failure)","ClinVar (Spermatogenic failure)","Disgenet (Testicular azoospermia)"]
SIX6	6	["Anophthalmia\/microphthalmia-esophageal atresia syndrome","Congenital cataract","Colobomatous optic disc macular atrophy chorioretinopathy syndrome","Glaucoma","Microphthalmia","Nystagmus"]	[]	6	["Disgenet (Anophthalmia\/microphthalmia-esophageal atresia syndrome)","Disgenet (Congenital cataract)","Disgenet (Colobomatous optic disc macular atrophy chorioretinopathy syndrome)","GWAS catalog (Glaucoma)","Disgenet (Microphthalmia)","Disgenet (Nystagmus)"]

C14orf39 (chromosome 14 open reading frame 39)

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