DIP2 disco-interacting protein 2 homolog B (Drosophila) [Source:HGNC Symbol;Acc:29284]
12
50898768
51142450
1
q13.12
50898768
51074065
DIP2B
DIP2B-003
HGNC Symbol
HGNC transcript name
5
41.84
protein_coding
retained_intron
ensembl_hava
havana
KNOWN
KNOWN
57609
29284
DIP2B
27519
MSeqDR Master Exome Data Set M1: 144 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
12
50898784
T
+GGC
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.17_18insGGC
p.M6NA
non-syn
NA
-
-
lod=66:417
-
-
-
het
18
2
12
50898784
T
+GGCGGCGGCGGCGGCGGC
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.17_18insGGCGGCGGCGGCGGCGGC
p.M6NA
non-syn
NA
-
-
lod=66:417
-
-
-
het
1
3
12
50898788
G
A
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.21G>A
p.A7A
syn
NA
-
-
lod=66:417
-
-
-
het
4
4
12
50898914
C
G
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
-
-
5'_UTR
NA
-
-
lod=372:602
-
-
-
het
1
5
12
50898914
C
G
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.147C>G
p.G49G
syn
NA
-
-
lod=372:602
-
-
-
het
1
6
12
50898917
A
G
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
-
-
5'_UTR
NA
-
-
lod=372:602
-
-
-
het
3
7
12
50898917
A
G
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.150A>G
p.G50G
syn
NA
-
-
lod=372:602
-
-
-
het
3
8
12
50898924
A
G
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
c.1A>G
p.M1V
non-syn
NA
-
-
lod=372:602
DAMAGING
D
-
het
2
9
12
50898924
A
G
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.157A>G
p.M53V
non-syn
NA
-
-
lod=372:602
DAMAGING
D
-
het
2
10
12
50899037
C
T
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
-
-
+14bp 5'_splice_site
NA
-
-
lod=372:602
-
-
-
het
5
11
12
50899037
C
T
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
-
-
+14bp 5'_splice_site
NA
-
-
lod=372:602
-
-
-
het
5
12
12
51054095
A
-CCT
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
c.421_423del
p.P141NA
non-syn
NA
-
-
lod=85:444
-
-
-
het
3
13
12
51054095
A
-CCT
ENST00000546719
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.198_200del
p.H66NA
non-syn
NA
-
-
lod=85:444
-
-
-
het
3
14
12
51054095
A
-CCT
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.577_579del
p.P193NA
non-syn
NA
-
-
lod=85:444
-
-
-
het
3
15
12
51065170
A
G
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
c.629A>G
p.N210S
non-syn
NA
-
-
lod=1589:757
TOLERATED
B
-
het
1
16
12
51065170
A
G
ENST00000546719
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.406A>G
p.I136V
non-syn
NA
-
-
lod=1589:757
TOLERATED
B
-
het
1
17
12
51065170
A
G
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.785A>G
p.N262S
non-syn
NA
-
-
lod=1589:757
TOLERATED
B
-
het
1
18
12
51068296
C
G
ENST00000301180
ENSG00000066084
50898768
51142450
ENSP00000301180
DIP2B
1
DIP2B_HUMAN
c.680C>G
p.S227C
non-syn
NA
-
-
lod=256:562
DAMAGING
B
-
het
1
19
12
51068296
C
G
ENST00000546719
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.457C>G
p.L153V
non-syn
NA
-
-
lod=256:562
DAMAGING
B
-
het
1
20
12
51068296
C
G
ENST00000549620
ENSG00000066084
50898768
51142450
-
DIP2B
1
-
c.836C>G
p.S279C
non-syn
NA
-
-
lod=256:562
DAMAGING
B
-
het
1
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