dbEM
A Database of Epigenetic Modifiers
Cite: Nanda JS, Kumar R, Raghava GP. (2016) dbEM: A database of epigenetic modifiers curated from cancerous and normal genomes. Sci Rep. 6:19340.
Protein: SMARCC2 |
| Expand All | Collapse All |
-
Mutation Data (+)
# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction 1 10-305B SOFT TISSUE c.3478G>A p.G1160R COSMIC CANCER Probably Damaging 2 587342 LARGE INTESTINE c.3148C>T p.P1050S COSMIC CANCER Benign 3 587376 LARGE INTESTINE c.328G>A p.D110N COSMIC CANCER Probably Damaging 4 Br03X CENTRAL NERVOUS SYSTEM c.985C>T p.R329C COSMIC CANCER Probably Damaging 5 Br27P CENTRAL NERVOUS SYSTEM c.3063G>A p.G1021G COSMIC NP NP 6 H2009 LUNG c.2703C>G p.I901M COSMIC CANCER Possibly Damaging 7 HCC102T LIVER c.2204T>A p.L735Q COSMIC CANCER Probably Damaging 8 HCC133T LIVER c.1984C>T p.Q662* COSMIC NP NP 9 HCC74T LIVER c.2762A>G p.E921G COSMIC CANCER Probably Damaging 10 HN_62832 UPPER AERODIGESTIVE TRACT c.2098T>C p.F700L COSMIC CANCER Benign 11 LB2518-MEL SKIN c.1840G>A p.E614K COSMIC PASSENGER/OTHER Benign 12 LC_C32 LUNG c.3397C>T p.P1133S COSMIC CANCER Benign 13 LUAD-RT-S01813 LUNG c.880G>T p.G294* COSMIC NP NP 14 LUAD-S01346 LUNG c.880G>T p.G294* COSMIC NP NP 15 LUAD-S01373 LUNG c.1563C>G p.T521T COSMIC NP NP 16 LUAD-YINHD LUNG c.1183G>A p.E395K COSMIC CANCER Probably Damaging 17 LUAD-YINHD LUNG c.460G>A p.G154R COSMIC PASSENGER/OTHER Possibly Damaging 18 MOLT-4 HAEMATOPOIETIC AND LYMPHOID TISSUE c.356G>A p.R119H COSMIC PASSENGER/OTHER Probably Damaging 19 NB-1744 AUTONOMIC GANGLIA c.3043C>A p.Q1015K COSMIC CANCER Benign 20 NCI-H2009 LUNG c.2703C>G p.I901M COSMIC CANCER Possibly Damaging 21 NCI-H2009 LUNG c.2736C>T p.I912I COSMIC NP NP 22 PC-9ER LUNG c.3618G>A p.T1206T COSMIC NP NP 23 PD4119a BREAST c.1411G>C p.D471H COSMIC CANCER Probably Damaging 24 RK007_C01 LIVER c.1089A>G p.T363T COSMIC NP NP 25 RK148_C01 LIVER c.571G>T p.V191L COSMIC PASSENGER/OTHER Probably Damaging 26 RK157_C01 LIVER c.231G>C p.P77P COSMIC NP NP 27 S00936 LUNG c.30delC p.N11fs*2 COSMIC NP NP 28 TCGA-18-3412-01 LUNG c.215C>T p.P72L COSMIC CANCER Probably Damaging 29 TCGA-22-1002-01 LUNG c.1258C>T p.Q420* COSMIC NP NP 30 TCGA-25-2400-01 OVARY c.1433A>T p.Q478L COSMIC CANCER Possibly Damaging 31 TCGA-38-4629-01 LUNG c.2482A>C p.K828Q COSMIC CANCER Probably Damaging 32 TCGA-38-7271-01 LUNG c.3182T>C p.M1061T COSMIC CANCER Benign 33 TCGA-39-5031-01 LUNG c.3022G>A p.G1008S COSMIC CANCER Benign 34 TCGA-49-4514-01 LUNG c.1513G>A p.E505K COSMIC CANCER Probably Damaging 35 TCGA-64-1676-01 LUNG c.3120T>C p.V1040V COSMIC NP NP 36 TCGA-66-2757-01 LUNG c.1889G>A p.R630H COSMIC CANCER Probably Damaging 37 TCGA-66-2786-01 LUNG c.2370C>G p.T790T COSMIC NP NP 38 TCGA-66-2795-01 LUNG c.1452C>T p.T484T COSMIC NP NP 39 TCGA-67-3771-01 LUNG c.920C>T p.P307L COSMIC CANCER Probably Damaging 40 TCGA-75-5126-01 LUNG c.2563G>A p.E855K COSMIC CANCER Possibly Damaging 41 TCGA-78-7149-01 LUNG c.2464G>C p.E822Q COSMIC CANCER Benign 42 TCGA-86-7711-01 LUNG c.1060G>C p.E354Q COSMIC CANCER Probably Damaging 43 TCGA-A3-3380-01 KIDNEY c.1352A>T p.N451I COSMIC CANCER Probably Damaging 44 TCGA-A5-A0G9-01 ENDOMETRIUM c.2883A>G p.P961P COSMIC NP NP 45 TCGA-A5-A0R7-01 ENDOMETRIUM c.2596C>T p.L866L COSMIC NP NP 46 TCGA-A5-A0VP-01 ENDOMETRIUM c.3498C>T p.A1166A COSMIC NP NP 47 TCGA-A6-6653-01 LARGE INTESTINE c.3523G>A p.A1175T COSMIC CANCER Probably Damaging 48 TCGA-A6-6781-01 LARGE INTESTINE c.3274_3276delCCT p.P1092delP COSMIC NP NP 49 TCGA-A6-6781-01 LARGE INTESTINE c.3342T>C p.P1114P COSMIC NP NP 50 TCGA-AA-3492-01 LARGE INTESTINE c.3128delC p.P1043fs*18 COSMIC NP NP 51 TCGA-AA-3516-01 LARGE INTESTINE c.2263G>T p.G755W COSMIC CANCER Probably Damaging 52 TCGA-AA-3815-01 LARGE INTESTINE c.3274_3276delCCT p.P1092delP COSMIC NP NP 53 TCGA-AA-3966-01 LARGE INTESTINE c.1890C>T p.R630R COSMIC NP NP 54 TCGA-AD-5900-01 LARGE INTESTINE c.2373C>T p.S791S COSMIC NP NP 55 TCGA-AD-6889-01 LARGE INTESTINE c.3128delC p.P1043fs*18 COSMIC NP NP 56 TCGA-AD-6895-01 LARGE INTESTINE c.3128delC p.P1043fs*18 COSMIC NP NP 57 TCGA-AG-A00C-01 LARGE INTESTINE c.595A>T p.K199* COSMIC NP NP 58 TCGA-AK-3427-01 KIDNEY c.3120T>C p.V1040V COSMIC NP NP 59 TCGA-AP-A051-01 ENDOMETRIUM c.1319C>A p.A440D COSMIC CANCER Possibly Damaging 60 TCGA-AP-A051-01 ENDOMETRIUM c.165G>T p.Q55H COSMIC PASSENGER/OTHER Probably Damaging 61 TCGA-AP-A051-01 ENDOMETRIUM c.2751A>G p.R917R COSMIC NP NP 62 TCGA-AP-A054-01 ENDOMETRIUM c.166T>G p.L56V COSMIC PASSENGER/OTHER Probably Damaging 63 TCGA-AX-A05Z-01 ENDOMETRIUM c.2839C>T p.R947W COSMIC CANCER Probably Damaging 64 TCGA-AX-A0IU-01 ENDOMETRIUM c.3218T>G p.V1073G COSMIC CANCER Possibly Damaging 65 TCGA-AX-A0J1-01 ENDOMETRIUM c.1210G>A p.G404R COSMIC CANCER Probably Damaging 66 TCGA-AZ-6601-01 LARGE INTESTINE c.1840G>T p.E614* COSMIC NP NP 67 TCGA-B0-5701-01 KIDNEY c.1605T>C p.A535A COSMIC NP NP 68 TCGA-B2-3924-01 KIDNEY c.2396A>G p.E799G COSMIC CANCER Possibly Damaging 69 TCGA-B5-A0JY-01 ENDOMETRIUM c.997G>T p.E333* COSMIC NP NP 70 TCGA-B5-A0K9-01 ENDOMETRIUM c.2586T>C p.A862A COSMIC NP NP 71 TCGA-B5-A11E-01 ENDOMETRIUM c.1392C>A p.A464A COSMIC NP NP 72 TCGA-B5-A11E-01 ENDOMETRIUM c.3222G>A p.A1074A COSMIC NP NP 73 TCGA-B5-A11E-01 ENDOMETRIUM c.322C>T p.R108C COSMIC CANCER Probably Damaging 74 TCGA-B8-5549-01 KIDNEY c.3225T>G p.G1075G COSMIC NP NP 75 TCGA-BG-A0VZ-01 ENDOMETRIUM c.3173C>A p.P1058H COSMIC CANCER Possibly Damaging 76 TCGA-BS-A0UF-01 ENDOMETRIUM c.1861A>C p.N621H COSMIC PASSENGER/OTHER Probably Damaging 77 TCGA-BT-A3PH-01 URINARY TRACT c.911C>G p.S304C COSMIC CANCER Probably Damaging 78 TCGA-C8-A12K-01 BREAST c.1624G>C p.V542L COSMIC CANCER Probably Damaging 79 TCGA-C8-A12U-01 BREAST c.3299G>A p.G1100D COSMIC CANCER Possibly Damaging 80 TCGA-C8-A1HM-01 BREAST c.2752G>A p.E918K COSMIC CANCER Possibly Damaging 81 TCGA-CM-5863-01 LARGE INTESTINE c.987T>C p.R329R COSMIC NP NP 82 TCGA-CM-5864-01 LARGE INTESTINE c.2573T>C p.L858P COSMIC CANCER Probably Damaging 83 TCGA-CM-6163-01 LARGE INTESTINE c.2211C>A p.S737R COSMIC CANCER Probably Damaging 84 TCGA-CM-6171-01 LARGE INTESTINE c.2703C>A p.I901I COSMIC NP NP 85 TCGA-D1-A103-01 ENDOMETRIUM c.3499G>T p.A1167S COSMIC CANCER Probably Damaging 86 TCGA-D1-A177-01 ENDOMETRIUM c.3297T>C p.F1099F COSMIC NP NP 87 TCGA-D5-6533-01 LARGE INTESTINE c.2736C>A p.I912I COSMIC NP NP 88 TCGA-D5-6541-01 LARGE INTESTINE c.1072C>T p.P358S COSMIC CANCER Benign 89 TCGA-D5-6930-01 LARGE INTESTINE c.1424T>C p.L475P COSMIC CANCER Probably Damaging 90 TCGA-DK-A1AE-01 URINARY TRACT c.1556G>A p.R519Q COSMIC CANCER Probably Damaging 91 TCGA-E2-A14S-01 BREAST c.1905C>T p.C635C COSMIC NP NP 92 TCGA-E9-A1NA-01 BREAST c.253A>G p.K85E COSMIC CANCER Probably Damaging 93 TCGA-EI-6507-01 LARGE INTESTINE c.1840G>A p.E614K COSMIC PASSENGER/OTHER Benign 94 TCGA-EW-A1IZ-01 BREAST c.1121G>A p.G374D COSMIC CANCER Probably Damaging 95 TCGA-F4-6570-01 LARGE INTESTINE c.575G>A p.R192Q COSMIC PASSENGER/OTHER Probably Damaging 96 TCGA-F4-6703-01 LARGE INTESTINE c.837T>C p.D279D COSMIC NP NP 97 TCGA-F5-6464-01 LARGE INTESTINE c.2701A>G p.I901V COSMIC CANCER Possibly Damaging 98 TCGA-G4-6303-01 LARGE INTESTINE c.1842A>G p.E614E COSMIC NP NP 99 TCGA-G4-6628-01 LARGE INTESTINE c.2590G>A p.A864T COSMIC CANCER Probably Damaging 100 TCGA-GV-A3JZ-01 URINARY TRACT c.1183G>C p.E395Q COSMIC CANCER Probably Damaging 101 TCGA-HC-7740-01 PROSTATE c.3529G>C p.V1177L COSMIC CANCER Benign 102 YUAKER SKIN c.1339C>T p.P447S COSMIC CANCER Probably Damaging 103 YULAN SKIN c.1279C>T p.P427S COSMIC CANCER Probably Damaging 104 YULAPE SKIN c.734C>T p.T245I COSMIC PASSENGER/OTHER Benign 105 cSCCP4 SKIN c.1255G>T p.E419* COSMIC NP NP
*NP: Not Predicted -
Copy number variation and expression profile (+)
-
Gene Essentiality Data (+)
Note: Lower the GARP score (more negative), higher the essentiality of the gene. P-value tells about the significane of GARP score.test -
Tertiary structure (+)
Users must enabled the Java in their browser to see structure.
Users can also download Java from here.Modelled Structure Structures available in PDB Structure is not available in PDBStructure is not available in PDB -
Structure Domains (+)
1. PFAM Domains:Domain ID Domain Name Start Site End Site E-value PB008232 Pfam-B_8232 17 158 4e-16 PF11616 EZH2_WD-Binding 39 68 3.3e-17 PB017256 Pfam-B_17256 108 188 2.4e-38 PB017256 Pfam-B_17256 271 695 3.1e-48 PB007590 Pfam-B_7590 506 590 5.7e-07 PF00856 SET 624 727 3.5e-22 Domain ID Domain Name Start Site End Site E-value PB008232 Pfam-B_8232 17 158 4e-16 PF11616 EZH2_WD-Binding 39 68 3.3e-17 PB017256 Pfam-B_17256 108 188 2.4e-38 PB017256 Pfam-B_17256 271 695 3.1e-48 PB007590 Pfam-B_7590 506 590 5.7e-07 PF00856 SET 624 727 3.5e-22 PB001849 Pfam-B_1849 2 173 7.3e-19 PF04433 SWIRM 425 512 2.9e-35 PF00249 Myb_DNA-binding 600 641 7.8e-09 PB014233 Pfam-B_14233 859 936 3.1e-16 -
Sequence Alignment (+)
Users must enabled the Java in their browser to see sequence alignments.
Users can also download Java from here.1. Variants are not present in 1000 Genomes!!2. Mutants are not present in CCLE!!3. Sequence alignment with COSMIC mutants:
Click on button to get Sequence alignment with Coverage, Consensus and Quality 4. Sequence alignment with homologus proteins:
Click on button to get Sequence alignment with Coverage, Consensus and Quality -
Sequence Profiles (+)
-
Post Translational Modifications (+)
S. No. Position Amino acid Type 1 102 S Phosphorylation 2 1208 T Phosphorylation 3 145 C S-nitrosylation 4 275 K Ubiquitylation 5 283 S Phosphorylation 6 283 S Phosphorylation 7 286 S Phosphorylation 8 286 S Phosphorylation 9 296 Y Phosphorylation 10 296 Y Phosphorylation 11 302 S Phosphorylation 12 302 S Phosphorylation 13 304 S Phosphorylation 14 304 S Phosphorylation 15 306 S Phosphorylation 16 306 S Phosphorylation 17 308 T Phosphorylation 18 321 S Phosphorylation 19 322 T Phosphorylation 20 322 T Phosphorylation 21 326 K Acetylation 22 326 K Acetylation 23 347 S Phosphorylation 24 347 S Phosphorylation 25 399 S Phosphorylation 26 465 Y Phosphorylation 27 548 T Phosphorylation 28 564 K Ubiquitylation 29 568 K Ubiquitylation 30 694 K Ubiquitylation 31 806 S Phosphorylation 32 806 S Phosphorylation 33 810 S Phosphorylation 34 813 S Phosphorylation 35 841 S Phosphorylation 36 872 K Ubiquitylation 37 874 K Ubiquitylation 38 897 K Ubiquitylation 39 898 K Ubiquitylation 40 902 K Ubiquitylation 41 940 K Ubiquitylation 42 941 Y Phosphorylation 43 969 S Phosphorylation -
Other Databases Link (+)
Proteomics DB COSMIC Gene Atlas STRING PIR SMARCC2 SMARCC2 SMARCC2 ENSP00000267064 Q8TAQ2 QuickGO HGNC Ensembl Genome Browser TreeFam UniProt Q8TAQ2 SMARCC2 ENSP00000267064 SMARCC2 Q8TAQ2 Expression Atlas Protein Atlas OMIM IntAct PharmGKB SMARCC2 ENSP00000267064 601734 Q8TAQ2 PA35955
