JPT1 Jupiter microtubule associated homolog 1
Information
- Symbol
- JPT1
- Type
- protein-coding
- Description
- Jupiter microtubule associated homolog 1
- Entrez Gene ID
- 51155
- Genome
- hg19
- Position
- chr17:73,131,402-73,150,770
- Genome
- hg38
- Position
- chr17:75,135,307-75,154,675
- MIM
- 619242 OMIM
- HGNC
- HGNC:14569 HGNC
- Ensembl
- ENSG00000189159 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
24 |
 |
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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| 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 | ARM2 |
| SYNONYM | HN1 |
| SYNONYM | HN1A |
| MIM | 619242 OMIM |
| HGNC | HGNC:14569 HGNC |
| Ensembl | ENSG00000189159 Ensembl |
| AllianceGenome | HGNC:14569 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000581874.1 | hg38 | chr17 | 75,136,201 | 75,154,512 | 18,312 |
| ENST00000482348.5 | hg38 | chr17 | 75,135,286 | 75,153,293 | 18,008 |
| ENST00000470924.5 | hg38 | chr17 | 75,135,886 | 75,153,866 | 17,981 |
| ENST00000476258.5 | hg38 | chr17 | 75,135,248 | 75,154,243 | 18,996 |
| ENST00000409753.8 | hg38 | chr17 | 75,135,248 | 75,154,512 | 19,265 |
| ENST00000356033.8 | hg38 | chr17 | 75,135,307 | 75,154,675 | 19,369 |
| ENST00000481647.5 | hg38 | chr17 | 75,135,992 | 75,153,826 | 17,835 |
| ENST00000476258.5 | hg19 | chr17 | 73,131,343 | 73,150,338 | 18,996 |
| ENST00000409753.8 | hg19 | chr17 | 73,131,343 | 73,150,607 | 19,265 |
| ENST00000482348.5 | hg19 | chr17 | 73,131,381 | 73,149,388 | 18,008 |
| ENST00000356033.8 | hg19 | chr17 | 73,131,402 | 73,150,770 | 19,369 |
| ENST00000470924.5 | hg19 | chr17 | 73,131,981 | 73,149,961 | 17,981 |
| ENST00000481647.5 | hg19 | chr17 | 73,132,087 | 73,149,921 | 17,835 |
| ENST00000581874.1 | hg19 | chr17 | 73,132,296 | 73,150,607 | 18,312 |
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