TMEM127 transmembrane protein 127

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: TMEM127
Type: protein-coding
Description: transmembrane protein 127
Entrez Gene ID: 55654
Genome: hg19
Position: chr2:96,914,252-96,931,735
Genome: hg38
Position: chr2:96,248,514-96,265,997
MIM: 613403 OMIM
HGNC: HGNC:26038 HGNC
Ensembl: ENSG00000135956 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	136
Likely pathogenic	0	58
Benign	0	72
Likely benign	2	492
Conflicting classifications of pathogenicity	0	50
Likely pathogenic; risk factor	0	2
not provided	4	0
Uncertain significance	7	1,046

Ranking

	ClinVar
	0
	0
	644
	1,114
	12

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

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Target data	:	MGeND data only
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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

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Target data	:	MGeND data only
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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
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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
MIM	613403 OMIM
HGNC	HGNC:26038 HGNC
Ensembl	ENSG00000135956 Ensembl
AllianceGenome	HGNC:26038

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000432959.1	hg38	chr2	96,251,660	96,265,994	14,335
ENST00000713752.1	hg38	chr2	96,248,518	96,266,047	17,530
ENST00000713753.1	hg38	chr2	96,250,594	96,266,023	15,430
ENST00000258439.8	hg38	chr2	96,248,514	96,265,997	17,484
ENST00000435268.2	hg38	chr2	96,248,514	96,260,595	12,082
ENST00000435268.2	hg19	chr2	96,914,252	96,926,333	12,082
ENST00000258439.8	hg19	chr2	96,914,252	96,931,735	17,484
ENST00000713752.1	hg19	chr2	96,914,256	96,931,785	17,530
ENST00000713753.1	hg19	chr2	96,916,332	96,931,761	15,430
ENST00000432959.1	hg19	chr2	96,917,398	96,931,732	14,335

Key	Value
strand	-
UniProt	TSG
start	96,915,945
Gene Symbol	TMEM127
Entrez GeneId	55,654
Chr Band	2q11.2
end	96,931,750
chr	chr2

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