ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6
Information
- Symbol
- ARHGEF6
- Type
- protein-coding
- Description
- Rac/Cdc42 guanine nucleotide exchange factor 6
- Entrez Gene ID
- 9459
- Genome
- hg19
- Position
- chrX:135,747,709-135,863,091
- Genome
- hg38
- Position
- chrX:136,665,550-136,780,932
- MIM
- 300267 OMIM
- HGNC
- HGNC:685 HGNC
- Ensembl
- ENSG00000129675 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 16 |
| Likely benign | 0 | 46 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 84 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
28 |
 |
108 |
 |
4 |
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 | : |
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| 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
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| Category | : |
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| 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 | COOL2 |
| SYNONYM | Cool-2 |
| SYNONYM | MRX46 |
| SYNONYM | PIXA |
| SYNONYM | alpha-PIX |
| SYNONYM | alphaPIX |
| MIM | 300267 OMIM |
| HGNC | HGNC:685 HGNC |
| Ensembl | ENSG00000129675 Ensembl |
| AllianceGenome | HGNC:685 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000370620.5 | hg38 | chrX | 136,665,547 | 136,767,343 | 101,797 |
| ENST00000370622.5 | hg38 | chrX | 136,665,547 | 136,768,627 | 103,081 |
| ENST00000250617.7 | hg38 | chrX | 136,665,550 | 136,780,932 | 115,383 |
| ENST00000370620.5 | hg19 | chrX | 135,747,706 | 135,849,502 | 101,797 |
| ENST00000370622.5 | hg19 | chrX | 135,747,706 | 135,850,786 | 103,081 |
| ENST00000250617.7 | hg19 | chrX | 135,747,709 | 135,863,091 | 115,383 |
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