DnaJ (Hsp40) homolog, subfamily C, member 6 [Source:HGNC Symbol;Acc:15469]
1
65713902
65881552
1
p31.3
65713902
65831877
DNAJC6
DNAJC6-004
HGNC Symbol
HGNC transcript name
8
40.01
protein_coding
processed_transcript
ensembl_hava
havana
KNOWN
KNOWN
9829
15469
DNAJC6
27511
MSeqDR Master Exome Data Set M1: 202 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
1
65775289
C
T
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
4
2
1
65775321
G
A
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
-
-
5'_UTR
NA
0.0121
-
-
-
-
-
het
1
3
1
65775330
A
-T
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
16
4
1
65775330
A
+T
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
-
-
5'_UTR
NA
-
-
-
-
-
-
het
8
5
1
65775582
C
G
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
c.154C>G
p.R52G
non-syn
NA
-
-
lod=280:571
TOLERATED
-
-
het
2
6
1
65830301
T
G
ENST00000263441
ENSG00000116675
65713902
65881552
ENSP00000263441
DNAJC6
1
AUXI_HUMAN
-
-
-17bp 3'_splice_site
NA
-
G=1/T=8595;G=2/T=4400;G=3/T=12995
-
-
-
-
hom
1
7
1
65830301
T
G
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
-
-
-17bp 3'_splice_site
NA
-
G=1/T=8595;G=2/T=4400;G=3/T=12995
-
-
-
-
hom
1
8
1
65830301
T
G
ENST00000395325
ENSG00000116675
65713902
65881552
ENSP00000378735
DNAJC6
1
AUXI_HUMAN
-
-
-17bp 3'_splice_site
NA
-
G=1/T=8595;G=2/T=4400;G=3/T=12995
-
-
-
-
hom
1
9
1
65830301
T
G
ENST00000463018
ENSG00000116675
65713902
65881552
-
DNAJC6
1
-
-
-
-17bp 3'_splice_site
NA
-
G=1/T=8595;G=2/T=4400;G=3/T=12995
-
-
-
-
hom
1
10
1
65830301
T
G
ENST00000483402
ENSG00000116675
65713902
65881552
-
DNAJC6
1
-
-
-
-17bp 3'_splice_site
NA
-
G=1/T=8595;G=2/T=4400;G=3/T=12995
-
-
-
-
hom
1
11
1
65830301
T
G
ENST00000494710
ENSG00000116675
65713902
65881552
ENSP00000473821
DNAJC6
1
-
-
-
-17bp 3'_splice_site
NA
-
G=1/T=8595;G=2/T=4400;G=3/T=12995
-
-
-
-
hom
1
12
1
65830319
T
G
ENST00000263441
ENSG00000116675
65713902
65881552
ENSP00000263441
DNAJC6
1
AUXI_HUMAN
-
-
5'_UTR
NA
-
-
lod=57:401
-
-
-
het
14
13
1
65830319
T
G
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
c.195T>G
p.G65G
syn
NA
-
-
lod=57:401
-
-
-
het
14
14
1
65830319
T
G
ENST00000395325
ENSG00000116675
65713902
65881552
ENSP00000378735
DNAJC6
1
AUXI_HUMAN
c.24T>G
p.G8G
syn
NA
-
-
lod=57:401
-
-
-
het
14
15
1
65830319
T
G
ENST00000463018
ENSG00000116675
65713902
65881552
-
DNAJC6
1
-
c.200T>G
p.V67G
non-syn
NA
-
-
lod=57:401
-
-
-
het
14
16
1
65830319
T
G
ENST00000483402
ENSG00000116675
65713902
65881552
-
DNAJC6
1
-
c.284T>G
p.V95G
non-syn
NA
-
-
lod=57:401
-
-
-
het
14
17
1
65830319
T
G
ENST00000494710
ENSG00000116675
65713902
65881552
ENSP00000473821
DNAJC6
1
-
c.117T>G
p.G39G
syn
NA
-
-
lod=57:401
-
-
-
het
14
18
1
65830323
T
C
ENST00000263441
ENSG00000116675
65713902
65881552
ENSP00000263441
DNAJC6
1
AUXI_HUMAN
-
-
5'_UTR
NA
-
-
lod=57:401
TOLERATED
P
-
het
1
19
1
65830323
T
C
ENST00000371069
ENSG00000116675
65713902
65881552
ENSP00000360108
DNAJC6
1
AUXI_HUMAN
c.199T>C
p.S67P
non-syn
NA
-
-
lod=57:401
TOLERATED
P
-
het
1
20
1
65830323
T
C
ENST00000395325
ENSG00000116675
65713902
65881552
ENSP00000378735
DNAJC6
1
AUXI_HUMAN
c.28T>C
p.S10P
non-syn
NA
-
-
lod=57:401
TOLERATED
P
-
het
1
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