ISLR immunoglobulin superfamily containing leucine rich repeat
Information
- Symbol
- ISLR
- Type
- protein-coding
- Description
- immunoglobulin superfamily containing leucine rich repeat
- Entrez Gene ID
- 3671
- Genome
- hg19
- Position
- chr15:74,466,051-74,469,212
- Genome
- hg38
- Position
- chr15:74,173,710-74,176,871
- MIM
- 602059 OMIM
- HGNC
- HGNC:6133 HGNC
- Ensembl
- ENSG00000129009 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 2 |
| not provided | 2 | 0 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
70 |
 |
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
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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 | HsT17563 |
| SYNONYM | Meflin |
| MIM | 602059 OMIM |
| HGNC | HGNC:6133 HGNC |
| Ensembl | ENSG00000129009 Ensembl |
| AllianceGenome | HGNC:6133 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000249842.8 | hg38 | chr15 | 74,173,710 | 74,176,871 | 3,162 |
| ENST00000395118.1 | hg38 | chr15 | 74,174,501 | 74,176,872 | 2,372 |
| ENST00000249842.8 | hg19 | chr15 | 74,466,051 | 74,469,212 | 3,162 |
| ENST00000395118.1 | hg19 | chr15 | 74,466,842 | 74,469,213 | 2,372 |
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