NHERF4 NHERF family PDZ scaffold protein 4
Information
- Symbol
- NHERF4
- Type
- protein-coding
- Description
- NHERF family PDZ scaffold protein 4
- Entrez Gene ID
- 79849
- Genome
- hg19
- Position
- chr11:119,056,184-119,060,922
- Genome
- hg38
- Position
- chr11:119,185,475-119,190,213
- MIM
- 607146 OMIM
- HGNC
- HGNC:19891 HGNC
- Ensembl
- ENSG00000172367 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 50 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
54 |
 |
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 | IKEPP |
| SYNONYM | PDZD3 |
| SYNONYM | PDZK2 |
| MIM | 607146 OMIM |
| HGNC | HGNC:19891 HGNC |
| Ensembl | ENSG00000172367 Ensembl |
| AllianceGenome | HGNC:19891 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000531114.5 | hg38 | chr11 | 119,185,475 | 119,190,223 | 4,749 |
| ENST00000355547.10 | hg38 | chr11 | 119,185,475 | 119,190,213 | 4,739 |
| ENST00000322712.4 | hg38 | chr11 | 119,185,486 | 119,190,211 | 4,726 |
| ENST00000525131.5 | hg38 | chr11 | 119,185,475 | 119,189,760 | 4,286 |
| ENST00000525131.5 | hg19 | chr11 | 119,056,184 | 119,060,469 | 4,286 |
| ENST00000355547.10 | hg19 | chr11 | 119,056,184 | 119,060,922 | 4,739 |
| ENST00000531114.5 | hg19 | chr11 | 119,056,184 | 119,060,932 | 4,749 |
| ENST00000322712.4 | hg19 | chr11 | 119,056,195 | 119,060,920 | 4,726 |
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