PDX Portal

Model Details

Patient Information for Model: BCM-PDAC-14

Model Contact

Model: BCM-PDAC-14
Model Contact: Qizhi Cathy Yao
Institution: BCM Pancreas PDX Program
Email: qizhiyao@bcm.edu

Patient Information

Clinical Timeline

Clinical Information at Collection

Clinical Biomarkers/Mutations at Collection

Pathology Information at Collection

Model Information for Model: BCM-PDAC-14

Model Details - Initial Implantation of Patient Tissue

Mutations (Cancer Gene Census List)

GeneFilter by Gene	ChrFilter by Chr	Start	End	Ref	Alt	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
AFF3	chr2	99593872	99593873	CG	C	c.1863del	gcC/gc	p.D623Tfs*48	0.425	8	4	Frameshift Mutation	Frameshift Mutation	HIGH	ENST00000409579.5		COSV57841232		rs201754690	8	4	ENST00000409579.5		COSV57841232	rs201754690
AFF3	chr2	99593875	99593880	CTGAGG	C	c.1856_1860del	aCCTCA/a	p.T619Sfs*72	0.42	8	2	Frameshift Mutation	Frameshift Mutation	HIGH	ENST00000409579.5		COSV57864141		rs199557232	8	2	ENST00000409579.5		COSV57864141	rs199557232
AKAP9	chr7	92022864	92022864	A	AAAC	c.4004_4006dup	aaa/aAACaa	p.K1335_L1336insQ	0.764	15	13	In-frame Insertion	In-frame Insertion	MODERATE	ENST00000356239.8		COSV62337888		rs10644111	15	13	ENST00000356239.8		COSV62337888	rs10644111
AR	chrX	67545316	67545316	T	TGCAGCAGCA	c.231_239dup	ctg/ctGCAGCAGCAg	p.Q78_Q80dup	0.7	17	3	In-frame Insertion	In-frame Insertion	MODERATE	ENST00000374690.9		COSV105309998			17	3	ENST00000374690.9		COSV105309998
ARID1A	chr1	26779283	26779283	G	C	c.5385G>C	aaG/aaC	p.K1795N	0.531	12	3	Missense Variant	Missense Variant	MODERATE	ENST00000324856.13		COSV61388346	0.000025336300	rs200221564	12	3	ENST00000324856.13		COSV61388346	rs200221564
ATM	chr11	108256249	108256249	G	A	c.2159G>A	cGt/cAt	p.R720H	0.245	12	3	Missense Variant	Missense Variant	MODERATE	ENST00000278616.8	Uncertain_significance	COSV99592647	0.000050739500	rs55830714	12	3	ENST00000278616.8	Uncertain_significance	COSV99592647	rs55830714
ATRX	chrX	77682471	77682471	C	G	c.2785G>C	Gag/Cag	p.E929Q	0.999	20	20	Missense Variant	Missense Variant	MODERATE	ENST00000373344.10	Benign			rs3088074	20	20	ENST00000373344.10	Benign		rs3088074
AXIN1	chr16	288189	288189	C	T	c.2522G>A	cGa/cAa	p.R841Q	0.462	3	3	Missense Variant	Missense Variant	MODERATE	ENST00000262320.8	Benign	COSV51989077	0.008448000000	rs34015754	3	3	ENST00000262320.8	Benign	COSV51989077	rs34015754
BCR	chr22	23253862	23253862	G	A	c.1343G>A	cGg/cAg	p.R448Q	0.46	7	3	Missense Variant	Missense Variant	MODERATE	ENST00000305877.13			0.000093353200	rs370367734	7	3	ENST00000305877.13			rs370367734
BIRC6	chr2	32488639	32488639	A	T	c.8020A>T	Act/Tct	p.T2674S	0.586	4	2	Missense Variant	Missense Variant	MODERATE	ENST00000421745.6	Benign	COSV70195673	0.588029000000	rs2366894	4	2	ENST00000421745.6	Benign	COSV70195673	rs2366894
CIITA	chr16	10909070	10909070	A	G	c.2702A>G	cAg/cGg	p.Q901R	0.993	24	24	Missense Variant	Missense Variant	MODERATE	ENST00000618327.4	Benign		0.983235000000	rs7197779	24	24	ENST00000618327.4	Benign		rs7197779
DDB2	chr11	47238177	47238177	G	A	c.1228G>A	Gca/Aca	p.A410T	0.306	5	5	Missense Variant	Missense Variant	MODERATE	ENST00000256996.9	Conflicting_interpretations_of_pathogenicity	COSV104563756	0.002523310000	rs143049891	5	5	ENST00000256996.9	Conflicting_interpretations_of_pathogenicity	COSV104563756	rs143049891
EPHA3	chr3	89340984	89340984	T	C	c.883T>C	Tct/Cct	p.S295P	0.325	3	3	Missense Variant	Missense Variant	MODERATE	ENST00000336596.7					3	3	ENST00000336596.7
ERCC2	chr19	45351661	45351661	T	G	c.2251A>C	Aag/Cag	p.K751Q	0.973	16	15	Missense Variant	Missense Variant	MODERATE	ENST00000391945.10	Benign/Likely_benign	COSV67266431	0.322955000000	rs13181	16	15	ENST00000391945.10	Benign/Likely_benign	COSV67266431	rs13181
ERCC4	chr16	13920182	13920182	C	A	c.17C>A	cCg/cAg	p.P6Q	0.571	7	3	Missense Variant	Missense Variant	MODERATE	ENST00000311895.8					7	3	ENST00000311895.8