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Bladder
BL8089
Model Details
Patient
PDX Model
Histology
Metastasis
Patient Treatment
Patient Information for Model: BL8089
Contact Model Developer
Model Contact
Model: BL8089
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: BL8089
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: 68
F
P
1
2
3
4
5
N
E
Rows Per Page
10
15
25
50
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Gene
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Chr
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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
ALK
chr2
29193706
29193706
T
C
c.4381A>G
Atc/Gtc
p.I1461V
0.75
8
8
Missense Variant
Missense Variant
MODERATE
ENST00000389048.8
Benign
COSV101201052
0.997594000000
rs1670283
8
8
ENST00000389048.8
Benign
COSV101201052
rs1670283
ARID1A
chr1
26696959
26696962
AGCG
A
c.567_569del
aGCGgc/agc
p.G191del
0.5
8
4
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000324856.13
.
8
4
ENST00000324856.13
.
AXIN2
chr17
65534045
65534045
C
T
c.2272G>A
Gcg/Acg
p.A758T
0.5
8
1
Missense Variant
Missense Variant
MODERATE
ENST00000307078.10
Conflicting_interpretations_of_pathogenicity
COSV61057162
0.001886490000
rs145007501
8
1
ENST00000307078.10
Conflicting_interpretations_of_pathogenicity
COSV61057162
rs145007501
AXIN2
chr17
65558473
65558473
G
A
c.148C>T
Cct/Tct
p.P50S
0.811
8
7
Missense Variant
Missense Variant
MODERATE
ENST00000307078.10
Benign
COSV61057354
0.474888000000
rs2240308
8
7
ENST00000307078.10
Benign
COSV61057354
rs2240308
BCR
chr22
23285182
23285182
A
G
c.2387A>G
aAt/aGt
p.N796S
0.667
8
8
Missense Variant
Missense Variant
MODERATE
ENST00000305877.13
Benign
COSV59932309
0.812555000000
rs140504
8
8
ENST00000305877.13
Benign
COSV59932309
rs140504
BIRC6
chr2
32488639
32488639
A
T
c.8020A>T
Act/Tct
p.T2674S
0.667
7
7
Missense Variant
Missense Variant
MODERATE
ENST00000421745.6
Benign
COSV70195673
0.588029000000
rs2366894
7
7
ENST00000421745.6
Benign
COSV70195673
rs2366894
CDKN1B
chr12
12718165
12718165
T
G
c.326T>G
gTc/gGc
p.V109G
0.667
6
6
Missense Variant
Missense Variant
MODERATE
ENST00000228872.9
Benign
COSV57429460
0.257887000000
rs2066827
6
6
ENST00000228872.9
Benign
COSV57429460
rs2066827
CEBPA
chr19
33302101
33302104
TCGC
T
c.311_313del
gGCGac/gac
p.G104del
0.342
8
7
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000498907.3
COSV57197415
.
8
7
ENST00000498907.3
COSV57197415
.
CHD4
chr12
6577877
6577877
G
A
c.5269C>T
Cgc/Tgc
p.R1757C
0.667
7
1
Missense Variant
Missense Variant
MODERATE
ENST00000544040.7
0.000008442100
rs750402336
7
1
ENST00000544040.7
rs750402336
CIITA
chr16
10909070
10909070
A
G
c.2702A>G
cAg/cGg
p.Q901R
0.8
8
8
Missense Variant
Missense Variant
MODERATE
ENST00000618327.4
Benign
0.983235000000
rs7197779
8
8
ENST00000618327.4
Benign
rs7197779
CREB3L2
chr7
137928167
137928170
CTGG
C
c.299_301del
aCCAgt/agt
p.T100del
0.667
4
4
In-frame Deletion
In-frame Deletion
MODERATE
ENST00000330387.11
COSV57791862
rs3217268
4
4
ENST00000330387.11
COSV57791862
rs3217268
ELN
chr7
74056384
74056384
G
A
c.1264G>A
Ggt/Agt
p.G422S
0.75
7
4
Missense Variant
Missense Variant
MODERATE
ENST00000252034.12
Benign
COSV52708305
0.318730000000
rs2071307
7
4
ENST00000252034.12
Benign
COSV52708305
rs2071307
EP300
chr22
41127648
41127648
G
T
c.1068G>T
caG/caT
p.Q356H
0.667
6
1
Missense Variant
Missense Variant
MODERATE
ENST00000263253.9
.
6
1
ENST00000263253.9
.
ERCC5
chr13
102875499
102875499
G
C
c.3157G>C
Gga/Cga
p.G1053R
0.667
8
8
Missense Variant
Missense Variant
MODERATE
ENST00000652225.2
Benign
COSV100863566
0.999497000000
rs9514066
8
8
ENST00000652225.2
Benign
COSV100863566
rs9514066
ERCC5
chr13
102875896
102875896
A
C
c.3554A>C
aAa/aCa
p.K1185T
0.667
8
1
Missense Variant
Missense Variant
MODERATE
ENST00000652225.2
Uncertain_significance
0.000185603000
rs201911663
8
1
ENST00000652225.2
Uncertain_significance
rs201911663
Total mutations showing: 68
F
P
1
2
3
4
5
N
E
Rows Per Page
10
15
25
50
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CNV
There are no omics data for this model.
Histology Information for Model: BL8089
There are no histology images for this model.
Metastasis Information for Model: BL8089
Patient
PDX
Abdomen
Adrenal
Colon
Kidney
Liver
Lung
Lymph Node
Pelvis
Peritoneum
Small Bowel
Patient Treatment Information for Model: BL8089
There are no treatments for this model.
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