ISCU iron-sulfur cluster assembly enzyme

Information
Symbol
ISCU
Type
protein-coding
Description
iron-sulfur cluster assembly enzyme
Entrez Gene ID
23479
Genome
hg19
Position
chr12:108,956,372-108,963,144
Genome
hg38
Position
chr12:108,562,596-108,569,368
MIM
611911 OMIM
HGNC
HGNC:29882 HGNC
Ensembl
ENSG00000136003 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 66
Likely benign 0 132
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 100
Ranking
ClinVar
0
0
64
232
2
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
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 2310020H20Rik
SYNONYM HML
SYNONYM ISU2
SYNONYM NIFU
SYNONYM NIFUN
SYNONYM hnifU
MIM 611911 OMIM
HGNC HGNC:29882 HGNC
Ensembl ENSG00000136003 Ensembl
AllianceGenome HGNC:29882
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000535729.5 hg38 chr12 108,562,601 108,568,547 5,947
ENST00000431221.6 hg38 chr12 108,562,601 108,569,092 6,492
ENST00000547005.5 hg38 chr12 108,562,601 108,569,099 6,499
ENST00000392807.8 hg38 chr12 108,562,606 108,569,368 6,763
ENST00000311893.14 hg38 chr12 108,562,596 108,569,368 6,773
ENST00000539593.1 hg38 chr12 108,562,610 108,567,908 5,299
ENST00000311893.14 hg19 chr12 108,956,372 108,963,144 6,773
ENST00000535729.5 hg19 chr12 108,956,377 108,962,323 5,947
ENST00000431221.6 hg19 chr12 108,956,377 108,962,868 6,492
ENST00000547005.5 hg19 chr12 108,956,377 108,962,875 6,499
ENST00000392807.8 hg19 chr12 108,956,382 108,963,144 6,763
ENST00000539593.1 hg19 chr12 108,956,386 108,961,684 5,299
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