ectopic P-granules autophagy protein 5 homolog (C. elegans) [Source:HGNC Symbol;Acc:29331]
18
43427574
43547240
-1
q21.1
43427574
43447715
EPG5
EPG5-009
HGNC Symbol
HGNC transcript name
10
40.87
protein_coding
protein_coding
ensembl_hava
havana
KNOWN
KNOWN
57724
29331
EPG5
27512
MSeqDR Master Exome Data Set M1: 513 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
18
43427585
C
T
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
2
18
43427585
C
T
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
3
18
43427623
G
A
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
rs1055066
0.365
-
lod=42:369
-
-
-
het
152
4
18
43427623
G
A
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
rs1055066
0.365
-
lod=42:369
-
-
-
hom
15
5
18
43427623
G
A
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
rs1055066
0.365
-
lod=42:369
-
-
-
het
152
6
18
43427623
G
A
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
rs1055066
0.365
-
lod=42:369
-
-
-
hom
15
7
18
43427690
A
G
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
8
18
43427690
A
G
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
9
18
43427918
G
A
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
rs500904
0.1306
-
-
-
-
-
het
37
10
18
43427918
G
A
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
rs500904
0.1306
-
-
-
-
-
het
37
11
18
43427957
A
+T
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
23
12
18
43427957
A
+T
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
177
13
18
43427957
A
+T
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
23
14
18
43427957
A
+T
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
177
15
18
43428216
T
A
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
16
18
43428216
T
A
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
17
18
43428323
T
+GG
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
13
18
18
43428323
T
+GG
ENST00000282041
ENSG00000152223
43427574
43547240
ENSP00000282041
EPG5
-1
EPG5_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
5
19
18
43428323
T
+GG
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
het
13
20
18
43428323
T
+GG
ENST00000590854
ENSG00000152223
43427574
43547240
ENSP00000467066
EPG5
-1
-
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
5
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