DLG4 discs large MAGUK scaffold protein 4

Information
Symbol
DLG4
Type
protein-coding
Description
discs large MAGUK scaffold protein 4
Entrez Gene ID
1742
Genome
hg19
Position
chr17:7,090,506-7,123,155
Genome
hg38
Position
chr17:7,187,187-7,219,836
MIM
602887 OMIM
HGNC
HGNC:2903 HGNC
Ensembl
ENSG00000132535 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 138
Likely pathogenic 0 64
Benign 0 24
Likely benign 0 60
Conflicting classifications of pathogenicity 0 10
not provided 0 6
Uncertain significance 0 164
Ranking
ClinVar
0
0
120
274
10
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 MRD62
SYNONYM PSD95
SYNONYM SAP-90
SYNONYM SAP90
MIM 602887 OMIM
HGNC HGNC:2903 HGNC
Ensembl ENSG00000132535 Ensembl
AllianceGenome HGNC:2903
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000647975.1 hg38 chr17 7,202,764 7,217,233 14,470
ENST00000648172.9 hg38 chr17 7,187,187 7,219,836 32,650
ENST00000485100.5 hg38 chr17 7,202,718 7,217,188 14,471
ENST00000649186.1 hg38 chr17 7,190,582 7,205,168 14,587
ENST00000302955.11 hg38 chr17 7,189,890 7,217,609 27,720
ENST00000649971.1 hg38 chr17 7,190,563 7,207,295 16,733
ENST00000399510.8 hg38 chr17 7,189,890 7,219,836 29,947
ENST00000399506.9 hg38 chr17 7,187,187 7,217,627 30,441
ENST00000649520.1 hg38 chr17 7,189,895 7,205,130 15,236
ENST00000648896.1 hg38 chr17 7,190,675 7,213,912 23,238
ENST00000399506.9 hg19 chr17 7,090,506 7,120,946 30,441
ENST00000648172.9 hg19 chr17 7,090,506 7,123,155 32,650
ENST00000302955.11 hg19 chr17 7,093,209 7,120,928 27,720
ENST00000399510.8 hg19 chr17 7,093,209 7,123,155 29,947
ENST00000485100.5 hg19 chr17 7,106,037 7,120,507 14,471
ENST00000647975.1 hg19 chr17 7,106,083 7,120,552 14,470
ENST00000649186.1 hg19 chr17 7,093,901 7,108,487 14,587
ENST00000648896.1 hg19 chr17 7,093,994 7,117,231 23,238
ENST00000649971.1 hg19 chr17 7,093,882 7,110,614 16,733
ENST00000649520.1 hg19 chr17 7,093,214 7,108,449 15,236
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