IQSEC2 IQ motif and Sec7 domain ArfGEF 2

Information
Symbol
IQSEC2
Type
protein-coding
Description
IQ motif and Sec7 domain ArfGEF 2
Entrez Gene ID
23096
Genome
hg19
Position
chrX:53,262,058-53,350,548
Genome
hg38
Position
chrX:53,232,876-53,321,350
MIM
300522 OMIM
HGNC
HGNC:29059 HGNC
Ensembl
ENSG00000124313 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 266
Likely pathogenic 0 102
Benign 0 234
Likely benign 0 834
Conflicting classifications of pathogenicity 0 114
not provided 7 0
other 1 0
Uncertain significance 0 782
Ranking
ClinVar
0
0
356
1,750
22
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 :
Search word :
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
Category :
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
TypeID
SYNONYM BRAG1
SYNONYM IQ-ArfGEF
SYNONYM MRX1
SYNONYM MRX18
SYNONYM MRX78
SYNONYM XLID1
MIM 300522 OMIM
HGNC HGNC:29059 HGNC
Ensembl ENSG00000124313 Ensembl
AllianceGenome HGNC:29059
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375365.2 hg38 chrX 53,234,110 53,281,614 47,505
ENST00000485377.5 hg38 chrX 53,266,329 53,281,594 15,266
ENST00000640694.1 hg38 chrX 53,232,874 53,321,319 88,446
ENST00000642864.1 hg38 chrX 53,232,876 53,321,350 88,475
ENST00000674510.1 hg38 chrX 53,232,876 53,321,324 88,449
ENST00000706952.1 hg38 chrX 53,232,876 53,321,282 88,407
ENST00000638583.1 hg38 chrX 53,266,642 53,281,581 14,940
ENST00000639161.2 hg38 chrX 53,266,328 53,281,584 15,257
ENST00000675719.1 hg38 chrX 53,232,875 53,321,350 88,476
ENST00000498281.2 hg38 chrX 53,266,324 53,281,535 15,212
ENST00000675731.1 hg38 chrX 53,266,339 53,282,026 15,688
ENST00000375365.2 hg19 chrX 53,263,292 53,310,796 47,505
ENST00000485377.5 hg19 chrX 53,295,511 53,310,776 15,266
ENST00000498281.2 hg19 chrX 53,295,506 53,310,717 15,212
ENST00000638583.1 hg19 chrX 53,295,824 53,310,763 14,940
ENST00000639161.2 hg19 chrX 53,295,510 53,310,766 15,257
ENST00000640694.1 hg19 chrX 53,262,056 53,350,517 88,462
ENST00000642864.1 hg19 chrX 53,262,058 53,350,548 88,491
ENST00000674510.1 hg19 chrX 53,262,058 53,350,522 88,465
ENST00000675719.1 hg19 chrX 53,262,057 53,350,548 88,492
ENST00000706952.1 hg19 chrX 53,262,058 53,350,480 88,423
ENST00000675731.1 hg19 chrX 53,295,521 53,311,208 15,688
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