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Bladder
BL8090
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: BL8090
Contact Model Developer
Model Contact
Model: BL8090
Model Contact: Seth Lerner
Institution: BCM Bladder PDX Program
Email:
bladdercan@bcm.edu
Patient Information
Clinical Timeline
Clinical Information at Collection
Pathology Information at Collection
Model Information for Model: BL8090
Model Details - Initial Implantation of Patient Tissue
Mutations (Cancer Gene Census List)
Show/Hide Columns
The number of models in this collection with mutations in the listed gene;
may include models that are not publicly available for distribution.
The number of models in this collection with mutations at the listed site;
may include models that are not publicly available for distribution.
Total mutations showing: 393
F
P
1
2
3
4
5
6
7
8
9
10
N
E
Rows Per Page
10
15
25
50
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Gene
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Chr
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Start
End
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cDNA Change
Codon Change
Protein Change
TVAF
Gene Mutation Freq.
Site Mutation Freq.
Most Severe Effect
All Effects
Mutation Impact
Transcript ID
ClinVar Clinical Significance
COSMIC ID
gnomAD Non-Cancer AF
dbSNP ID
Gene Mutation Freq.
Site Mutation Freq.
Transcript ID
ClinVar Clinical Significance
COSMIC ID
dbSNP ID
A1CF
chr10
50809906
50809909
TAGC
T
c.1594_1596del
GCT/-
p.A532del
0.035
2
2
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000373997.8
COSV50964203
rs747104061
2
2
ENST00000373997.8
COSV50964203
rs747104061
ABL1
chr9
130884102
130884105
CAAG
C
c.1826_1828del
AAG/-
p.K609del
0.066
6
6
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000318560.6
COSV59324524
rs201725154
6
6
ENST00000318560.6
COSV59324524
rs201725154
ACVR1
chr2
157770481
157770481
C
T
c.677G>A
aGc/aAc
p.S226N
0.05
2
1
Missense Variant
Missense Variant
MODERATE
ENST00000434821.7
COSV55117056
0.000004228080
rs1401182199
2
1
ENST00000434821.7
COSV55117056
rs1401182199
AFDN
chr6
167944041
167944041
T
C
c.3196T>C
Tcc/Ccc
p.S1066P
0.058
7
1
Missense Variant
Missense Variant
MODERATE
ENST00000366806.6
.
7
1
ENST00000366806.6
.
AFDN
chr6
167966011
167966014
TGAG
T
c.5091_5093del
GAG/-
p.E1697del
0.046
7
7
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000366806.6
COSV60040388
.
7
7
ENST00000366806.6
COSV60040388
.
AFF3
chr2
99593872
99593873
CG
C
c.1863del
gcC/gc
p.D623Tfs*48
0.417
6
1
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57841232
rs201754690
6
1
ENST00000409579.5
COSV57841232
rs201754690
AFF3
chr2
99601548
99601551
CGCT
C
c.1330_1332del
AGC/-
p.S444del
0.052
6
6
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000409579.5
COSV57843239
.
6
6
ENST00000409579.5
COSV57843239
.
AFF3
chr2
99593875
99593880
CTGAGG
C
c.1856_1860del
aCCTCA/a
p.T619Sfs*72
0.417
6
1
Frameshift Mutation
Frameshift Mutation
HIGH
ENST00000409579.5
COSV57864141
rs199557232
6
1
ENST00000409579.5
COSV57864141
rs199557232
AKAP9
chr7
92001306
92001306
G
T
c.1389G>T
atG/atT
p.M463I
0.396
7
5
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign
COSV62345589
0.376835000000
rs6964587
7
5
ENST00000356239.8
Benign
COSV62345589
rs6964587
AKAP9
chr7
92085597
92085597
C
T
c.8935C>T
Cct/Tct
p.P2979S
0.982
7
7
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign/Likely_benign
COSV104663065
0.996325000000
rs1063242
7
7
ENST00000356239.8
Benign/Likely_benign
COSV104663065
rs1063242
AKAP9
chr7
92083384
92083384
A
G
c.8375A>G
aAt/aGt
p.N2792S
0.382
7
5
Missense Variant
Missense Variant
MODERATE
ENST00000356239.8
Benign/Likely_benign
COSV62339152
0.357813000000
rs6960867
7
5
ENST00000356239.8
Benign/Likely_benign
COSV62339152
rs6960867
AKAP9
chr7
92022864
92022864
A
AAAC
c.4004_4006dup
aaa/aAACaa
p.K1335_L1336insQ
0.403
7
5
In-frame Insertion
In-frame Insertion
MODERATE
ENST00000356239.8
COSV62337888
rs10644111
7
5
ENST00000356239.8
COSV62337888
rs10644111
ALDH2
chr12
111783222
111783222
G
A
c.284G>A
cGc/cAc
p.R95H
0.023
1
1
Missense Variant
Missense Variant
MODERATE
ENST00000261733.7
COSV55665025
0.000016978600
rs940553638
1
1
ENST00000261733.7
COSV55665025
rs940553638
ALK
chr2
29193706
29193706
T
C
c.4381A>G
Atc/Gtc
p.I1461V
0.994
8
8
Missense Variant
Missense Variant
MODERATE
ENST00000389048.8
Benign
COSV101201052
0.997594000000
rs1670283
8
8
ENST00000389048.8
Benign
COSV101201052
rs1670283
ALK
chr2
29232411
29232411
G
A
c.2525C>T
gCc/gTc
p.A842V
0.02
8
1
Missense Variant
Missense Variant
MODERATE
ENST00000389048.8
.
8
1
ENST00000389048.8
.
Total mutations showing: 393
F
P
1
2
3
4
5
6
7
8
9
10
N
E
Rows Per Page
10
15
25
50
Download
CNV
There are no omics data for this model.
Histology Information for Model: BL8090
There are no histology images for this model.
Metastasis Information for Model: BL8090
Patient
PDX
Abdomen
Adrenal
Colon
Kidney
Liver
Lung
Lymph Node
Pelvis
Peritoneum
Small Bowel
Patient Treatment Information for Model: BL8090
There are no treatments for this model.
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