TERF1 telomeric repeat binding factor 1

Go to:

Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
Genome browser

Information

Symbol: TERF1
Type: protein-coding
Description: telomeric repeat binding factor 1
Entrez Gene ID: 7013
Genome: hg19
Position: chr8:73,921,099-73,959,714
Genome: hg38
Position: chr8:73,008,864-73,047,479
MIM: 600951 OMIM
HGNC: HGNC:11728 HGNC
Ensembl: ENSG00000147601 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	40
Likely benign	0	8
not provided	1	0
Uncertain significance	0	30

Ranking

	ClinVar
	0
	0
	0
	78
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
Search word	:
Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	PIN2
SYNONYM	TRBF1
SYNONYM	TRF
SYNONYM	TRF1
SYNONYM	hTRF1-AS
SYNONYM	t-TRF1
MIM	600951 OMIM
HGNC	HGNC:11728 HGNC
Ensembl	ENSG00000147601 Ensembl
AllianceGenome	HGNC:11728

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000276603.10	hg38	chr8	73,008,864	73,048,123	39,260
ENST00000678518.1	hg38	chr8	73,008,864	73,048,122	39,259
ENST00000517390.2	hg38	chr8	73,008,860	73,047,598	38,739
ENST00000679115.1	hg38	chr8	73,008,860	73,047,479	38,620
ENST00000678860.1	hg38	chr8	73,008,864	73,047,479	38,616
ENST00000276602.10	hg38	chr8	73,008,864	73,048,122	39,259
ENST00000679115.1	hg19	chr8	73,921,095	73,959,714	38,620
ENST00000517390.2	hg19	chr8	73,921,095	73,959,833	38,739
ENST00000678860.1	hg19	chr8	73,921,099	73,959,714	38,616
ENST00000678518.1	hg19	chr8	73,921,099	73,960,357	39,259
ENST00000276602.10	hg19	chr8	73,921,099	73,960,357	39,259
ENST00000276603.10	hg19	chr8	73,921,099	73,960,358	39,260

Genome browser