Malignant Eye Neoplasm — Genomics

Malignant Eye Neoplasm — Genomics · CancerIndex

Genomics

Gene alteration frequencies by cohort

7 cohorts mapped to this entity or its descendants. Each frequency is affected / profiled within one cohort; cohorts are shown separately because case selection, sequencing depth and definitions differ. By default the cohort with the most cases profiled is shown.

Retinoblastoma cfDNA (MSK, Cancer Med 2020) rbl_cfdna_msk_2020MSK

14 cases with simple somatic mutation data · 14 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER

cbioportalObserved2 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RB1

Cohorts mapped to a descendant (e.g. a subtype) are included because their cases belong to this entity by definition; the mapping and its match type are shown per cohort.

Retinoblastoma (MSK, Cancers 2021) rbl_mskcc_2020MSK

83 cases with simple somatic mutation data · 83 cases total · 2026-01-16 · mapped to Retinoblastoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	RB1	Ssm	52	83	62.7%	cbioportal
2	BCOR	Ssm	14	83	16.9%	cbioportal
3	ARID1A	Ssm	3	83	3.6%	cbioportal
5	FAT1	Ssm	3	83	3.6%	cbioportal
6	RPTOR	Ssm	3	83	3.6%	cbioportal
7	ZFHX3	Ssm	3	83	3.6%	cbioportal
4	BRD4	Ssm	3	83	3.6%	cbioportal
19	PREX2	Ssm	2	78	2.6%	cbioportal
13	MSH3	Ssm	2	78	2.6%	cbioportal
17	POLD1	Ssm	2	83	2.4%	cbioportal
18	POLE	Ssm	2	83	2.4%	cbioportal
20	TERT	Ssm	2	83	2.4%	cbioportal
8	ARID1B	Ssm	2	83	2.4%	cbioportal
10	KMT2C	Ssm	2	83	2.4%	cbioportal
9	HLA-A	Ssm	2	83	2.4%	cbioportal
11	KMT2D	Ssm	2	83	2.4%	cbioportal
15	NSD1	Ssm	2	83	2.4%	cbioportal
16	PIK3CD	Ssm	2	83	2.4%	cbioportal
14	NCOA3	Ssm	2	83	2.4%	cbioportal
12	MAP3K1	Ssm	2	83	2.4%	cbioportal
66	RAC2	Ssm	1	78	1.3%	cbioportal
67	RRAGC	Ssm	1	78	1.3%	cbioportal
68	RTEL1	Ssm	1	78	1.3%	cbioportal
74	TEK	Ssm	1	78	1.3%	cbioportal
76	TP53BP1	Ssm	1	78	1.3%	cbioportal
78	WHR1	Ssm	1	78	1.3%	cbioportal
30	CARM1	Ssm	1	78	1.3%	cbioportal
63	PRKD1	Ssm	1	78	1.3%	cbioportal
25	BABAM1	Ssm	1	78	1.3%	cbioportal
31	CBL	Ssm	1	83	1.2%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Uveal Melanoma TCGA-UVMTCGA

80 cases with simple somatic mutation data · 80 cases total · Data Release 46.0 · mapped to Uveal Melanoma ONTOLOGY_EXACT

gdcObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	CCN4	Ssm	62	80	77.5%	gdc
2	SLC45A4	Ssm	61	80	76.3%	gdc
23	TRIB1	Ssm	60	80	75%	gdc
11	TNFRSF11B	Ssm	60	80	75%	gdc
12	KCNK9	Ssm	60	80	75%	gdc
13	RAD21	Ssm	60	80	75%	gdc
14	FAM91A1	Ssm	60	80	75%	gdc
15	MYC	Ssm	60	80	75%	gdc
16	NTAQ1	Ssm	60	80	75%	gdc
17	POU5F1B	Ssm	60	80	75%	gdc
5	AGO2	Ssm	60	80	75%	gdc
18	EXT1	Ssm	60	80	75%	gdc
19	GSDMC	Ssm	60	80	75%	gdc
20	TRAPPC9	Ssm	60	80	75%	gdc
4	NDRG1	Ssm	60	80	75%	gdc
3	GRHL2	Ssm	60	80	75%	gdc
21	AC138647.1	Ssm	60	80	75%	gdc
22	ADCY8	Ssm	60	80	75%	gdc
24	PHF20L1	Ssm	60	80	75%	gdc
25	ASAP1	Ssm	60	80	75%	gdc
26	SLC30A8	Ssm	60	80	75%	gdc
27	HAS2	Ssm	60	80	75%	gdc
28	DERL1	Ssm	60	80	75%	gdc
29	NSMCE2	Ssm	60	80	75%	gdc
30	EIF3H	Ssm	60	80	75%	gdc
31	SAMD12	Ssm	60	80	75%	gdc
32	HHLA1	Ssm	60	80	75%	gdc
33	TATDN1	Ssm	60	80	75%	gdc
34	TRPS1	Ssm	60	80	75%	gdc
35	TRMT12	Ssm	60	80	75%	gdc

Data updated 22 days agoSource updated Data Release 46.0

Uveal Melanoma (QIMR, Oncotarget 2016) um_qimr_2016QIMR

26 cases with simple somatic mutation data · 28 cases total · 2026-01-16 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNA11	Ssm	15	26	57.7%	cbioportal
2	BAP1	Ssm	11	26	42.3%	cbioportal
3	GNAQ	Ssm	8	26	30.8%	cbioportal
4	EIF1AX	Ssm	4	26	15.4%	cbioportal
5	SF3B1	Ssm	3	26	11.5%	cbioportal
8	TCHH	Ssm	2	26	7.7%	cbioportal
7	PLCB4	Ssm	2	26	7.7%	cbioportal
6	LLGL1	Ssm	2	26	7.7%	cbioportal
9	TTN	Ssm	2	26	7.7%	cbioportal
27	ASIC1	Ssm	1	26	3.8%	cbioportal
199	SLC35F6	Ssm	1	26	3.8%	cbioportal
200	SLC7A8	Ssm	1	26	3.8%	cbioportal
97	HELZ2	Ssm	1	26	3.8%	cbioportal
10	A2ML1	Ssm	1	26	3.8%	cbioportal
11	AANAT	Ssm	1	26	3.8%	cbioportal
12	ABCB9	Ssm	1	26	3.8%	cbioportal
13	ACACB	Ssm	1	26	3.8%	cbioportal
14	ADAM18	Ssm	1	26	3.8%	cbioportal
15	ADAM8	Ssm	1	26	3.8%	cbioportal
16	ADAMTS18	Ssm	1	26	3.8%	cbioportal
17	ADAMTS9	Ssm	1	26	3.8%	cbioportal
18	AGAP3	Ssm	1	26	3.8%	cbioportal
19	AKAP1	Ssm	1	26	3.8%	cbioportal
20	AMBRA1	Ssm	1	26	3.8%	cbioportal
21	ANXA4	Ssm	1	26	3.8%	cbioportal
22	APBB1	Ssm	1	26	3.8%	cbioportal
23	APOA4	Ssm	1	26	3.8%	cbioportal
24	ARAP3	Ssm	1	26	3.8%	cbioportal
25	ARHGAP32	Ssm	1	26	3.8%	cbioportal
26	ARVCF	Ssm	1	26	3.8%	cbioportal

Data updated 22 days agoSource updated 2026-01-16

Uveal Melanoma (TCGA, Firehose Legacy) uvm_tcgaTCGA

80 cases with simple somatic mutation data · 80 cases total · 2026-01-13 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	40	80	50%	cbioportal
2	GNA11	Ssm	36	80	45%	cbioportal
3	BAP1	Ssm	26	80	32.5%	cbioportal
4	SF3B1	Ssm	18	80	22.5%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
7	TTN	Ssm	5	80	6.3%	cbioportal
6	MUC16	Ssm	5	80	6.3%	cbioportal
10	CYSLTR2	Ssm	3	80	3.8%	cbioportal
11	MYOF	Ssm	3	80	3.8%	cbioportal
13	PLCB2	Ssm	3	80	3.8%	cbioportal
8	COL14A1	Ssm	3	80	3.8%	cbioportal
9	CSMD3	Ssm	3	80	3.8%	cbioportal
12	PKHD1L1	Ssm	3	80	3.8%	cbioportal
15	SRSF2	Ssm	3	80	3.8%	cbioportal
14	RYR2	Ssm	3	80	3.8%	cbioportal
23	CACNA2D1	Ssm	2	80	2.5%	cbioportal
21	CACNA1B	Ssm	2	80	2.5%	cbioportal
20	C3	Ssm	2	80	2.5%	cbioportal
19	ARHGEF17	Ssm	2	80	2.5%	cbioportal
18	APC	Ssm	2	80	2.5%	cbioportal
17	ADAMTSL1	Ssm	2	80	2.5%	cbioportal
16	ABR	Ssm	2	80	2.5%	cbioportal
22	CACNA1D	Ssm	2	80	2.5%	cbioportal
30	CFAP52	Ssm	2	80	2.5%	cbioportal
29	CEP131	Ssm	2	80	2.5%	cbioportal
28	CENPE	Ssm	2	80	2.5%	cbioportal
27	CEMIP2	Ssm	2	80	2.5%	cbioportal
26	CDH4	Ssm	2	80	2.5%	cbioportal
25	CCN4	Ssm	2	80	2.5%	cbioportal
24	CADM3	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-13

Uveal Melanoma (TCGA GDC, 2025) um_tcga_gdcTCGA GDC

80 cases with simple somatic mutation data · 80 cases total · 2026-01-14 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	39	80	48.8%	cbioportal
2	GNA11	Ssm	35	80	43.8%	cbioportal
3	SF3B1	Ssm	18	80	22.5%	cbioportal
4	BAP1	Ssm	16	80	20%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	TTN	Ssm	4	80	5%	cbioportal
12	PKHD1L1	Ssm	3	80	3.8%	cbioportal
7	COL14A1	Ssm	3	80	3.8%	cbioportal
8	CYSLTR2	Ssm	3	80	3.8%	cbioportal
9	MACF1	Ssm	3	80	3.8%	cbioportal
10	MUC16	Ssm	3	80	3.8%	cbioportal
11	MYOF	Ssm	3	80	3.8%	cbioportal
13	SRSF2	Ssm	3	80	3.8%	cbioportal
30	GLIS3	Ssm	2	80	2.5%	cbioportal
29	EVC	Ssm	2	80	2.5%	cbioportal
28	EIF1B	Ssm	2	80	2.5%	cbioportal
27	DSCAML1	Ssm	2	80	2.5%	cbioportal
26	DNAH17	Ssm	2	80	2.5%	cbioportal
25	DGKK	Ssm	2	80	2.5%	cbioportal
24	DEPDC5	Ssm	2	80	2.5%	cbioportal
23	CSMD3	Ssm	2	80	2.5%	cbioportal
22	CFAP52	Ssm	2	80	2.5%	cbioportal
21	CEP131	Ssm	2	80	2.5%	cbioportal
20	CENPE	Ssm	2	80	2.5%	cbioportal
19	CDH4	Ssm	2	80	2.5%	cbioportal
18	CCN4	Ssm	2	80	2.5%	cbioportal
17	CACNA1D	Ssm	2	80	2.5%	cbioportal
16	C3	Ssm	2	80	2.5%	cbioportal
15	ARHGEF17	Ssm	2	80	2.5%	cbioportal
14	APC	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-01-14

Uveal Melanoma (TCGA, PanCancer Atlas) uvm_tcga_pan_can_atlas_2018TCGA

80 cases with simple somatic mutation data · 80 cases total · 2026-06-05 · mapped to Uveal Melanoma EXACT_IDENTIFIER

cbioportalObserved30 genes · frequency = affected / profiled, as published by the cohort.

#	Gene	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Source
1	GNAQ	Ssm	40	80	50%	cbioportal
2	GNA11	Ssm	36	80	45%	cbioportal
3	SF3B1	Ssm	18	80	22.5%	cbioportal
4	BAP1	Ssm	13	80	16.3%	cbioportal
5	EIF1AX	Ssm	10	80	12.5%	cbioportal
6	MUC16	Ssm	4	80	5%	cbioportal
7	TTN	Ssm	4	80	5%	cbioportal
8	COL14A1	Ssm	3	80	3.8%	cbioportal
9	CSMD3	Ssm	3	80	3.8%	cbioportal
10	CYSLTR2	Ssm	3	80	3.8%	cbioportal
11	MACF1	Ssm	3	80	3.8%	cbioportal
12	MYOF	Ssm	3	80	3.8%	cbioportal
13	PKHD1L1	Ssm	3	80	3.8%	cbioportal
14	SRSF2	Ssm	3	80	3.8%	cbioportal
15	ADAMTSL1	Ssm	2	80	2.5%	cbioportal
16	APC	Ssm	2	80	2.5%	cbioportal
17	ARHGEF17	Ssm	2	80	2.5%	cbioportal
18	C3	Ssm	2	80	2.5%	cbioportal
19	CACNA1D	Ssm	2	80	2.5%	cbioportal
20	CCN4	Ssm	2	80	2.5%	cbioportal
21	CDH4	Ssm	2	80	2.5%	cbioportal
22	CEMIP2	Ssm	2	80	2.5%	cbioportal
23	CENPE	Ssm	2	80	2.5%	cbioportal
24	CEP131	Ssm	2	80	2.5%	cbioportal
25	CFAP52	Ssm	2	80	2.5%	cbioportal
26	CNTN5	Ssm	2	80	2.5%	cbioportal
27	COL9A2	Ssm	2	80	2.5%	cbioportal
28	DEPDC5	Ssm	2	80	2.5%	cbioportal
29	DNAH17	Ssm	2	80	2.5%	cbioportal
30	DSCAML1	Ssm	2	80	2.5%	cbioportal

Data updated 22 days agoSource updated 2026-06-05