C2CD5 C2 calcium dependent domain containing 5
Information
- Symbol
- C2CD5
- Type
- protein-coding
- Description
- C2 calcium dependent domain containing 5
- Entrez Gene ID
- 9847
- Genome
- hg19
- Position
- chr12:22,602,590-22,697,426
- Genome
- hg38
- Position
- chr12:22,449,656-22,544,492
- MIM
- 618044 OMIM
- HGNC
- HGNC:29062 HGNC
- Ensembl
- ENSG00000111731 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 90 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
90 |
 |
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
[No Data.]
Locus Zoom
Variants
Search Word
| 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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| 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
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| Category | : |
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| 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 | CDP138 |
| SYNONYM | KIAA0528 |
| MIM | 618044 OMIM |
| HGNC | HGNC:29062 HGNC |
| Ensembl | ENSG00000111731 Ensembl |
| AllianceGenome | HGNC:29062 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000542676.5 | hg38 | chr12 | 22,449,581 | 22,544,253 | 94,673 |
| ENST00000545552.5 | hg38 | chr12 | 22,449,656 | 22,544,492 | 94,837 |
| ENST00000396028.6 | hg38 | chr12 | 22,449,545 | 22,544,409 | 94,865 |
| ENST00000446597.6 | hg38 | chr12 | 22,448,583 | 22,544,542 | 95,960 |
| ENST00000333957.8 | hg38 | chr12 | 22,448,583 | 22,544,546 | 95,964 |
| ENST00000536386.5 | hg38 | chr12 | 22,449,545 | 22,544,409 | 94,865 |
| ENST00000333957.8 | hg19 | chr12 | 22,601,517 | 22,697,480 | 95,964 |
| ENST00000446597.6 | hg19 | chr12 | 22,601,517 | 22,697,476 | 95,960 |
| ENST00000396028.6 | hg19 | chr12 | 22,602,479 | 22,697,343 | 94,865 |
| ENST00000536386.5 | hg19 | chr12 | 22,602,479 | 22,697,343 | 94,865 |
| ENST00000542676.5 | hg19 | chr12 | 22,602,515 | 22,697,187 | 94,673 |
| ENST00000545552.5 | hg19 | chr12 | 22,602,590 | 22,697,426 | 94,837 |
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