TMTC1 transmembrane O-mannosyltransferase targeting cadherins 1
Information
- Symbol
- TMTC1
- Type
- protein-coding
- Description
- transmembrane O-mannosyltransferase targeting cadherins 1
- Entrez Gene ID
- 83857
- Genome
- hg19
- Position
- chr12:29,653,773-29,936,875
- Genome
- hg38
- Position
- chr12:29,500,840-29,783,942
- MIM
- 615855 OMIM
- HGNC
- HGNC:24099 HGNC
- Ensembl
- ENSG00000133687 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 12 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 96 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
114 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ARG99 |
| SYNONYM | OLF |
| SYNONYM | TMTC1A |
| MIM | 615855 OMIM |
| HGNC | HGNC:24099 HGNC |
| Ensembl | ENSG00000133687 Ensembl |
| AllianceGenome | HGNC:24099 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000552618.5 | hg38 | chr12 | 29,505,699 | 29,783,798 | 278,100 |
| ENST00000256062.9 | hg38 | chr12 | 29,500,840 | 29,784,759 | 283,920 |
| ENST00000551659.6 | hg38 | chr12 | 29,500,840 | 29,783,942 | 283,103 |
| ENST00000539277.6 | hg38 | chr12 | 29,500,840 | 29,783,942 | 283,103 |
| ENST00000539277.6 | hg19 | chr12 | 29,653,773 | 29,936,875 | 283,103 |
| ENST00000551659.6 | hg19 | chr12 | 29,653,773 | 29,936,875 | 283,103 |
| ENST00000256062.9 | hg19 | chr12 | 29,653,773 | 29,937,692 | 283,920 |
| ENST00000552618.5 | hg19 | chr12 | 29,658,632 | 29,936,731 | 278,100 |
Genome browser