dbEM

Protein: KMT2D

Mutation Data (+)

# Cell Line/Tumor sample Tissue of Origin cDNA change Protein change Source FATHMM Prediction PolyPhen2 Prediction

*NP: Not Predicted
Copy number variation and expression profile (+)

Expression and CNV data is not present for KMT2D!!
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.

Gene essentiality data is not present in COLT database!!
Tertiary structure (+)

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Modelled Structure Structures available in PDB

3UVK, 4ERQ,

Structure Domains (+)

1. PFAM Domains:

Domain ID	Domain Name	Start Site	End Site	E-value
PF13771	zf-HC5HC2H	139	218	1.5e-12
PF00628	PHD	275	322	4.1e-09
PB015591	Pfam-B_15591	739	863	0.00077
PF00628	PHD	1379	1428	2.8e-07
PF00628	PHD	1429	1476	3.2e-09
PB006766	Pfam-B_6766	1439	1471	2e-08
PB003953	Pfam-B_3953	3502	3992	0.00036
PB004150	Pfam-B_4150	3508	3988	6.1e-13
PB003049	Pfam-B_3049	3533	3982	9.7e-05
PB006617	Pfam-B_6617	3853	4609	2.1e-05
PB004299	Pfam-B_4299	3854	4023	2e-06
PB001156	Pfam-B_1156	3856	3973	0.00063
PB008040	Pfam-B_8040	3856	3988	0.00016
PB005160	Pfam-B_5160	3870	3977	5.6e-07
PF13771	zf-HC5HC2H	5059	5137	3.5e-13
PF05964	FYRN	5180	5232	1.1e-20
PF05965	FYRC	5237	5323	3.6e-25
PF00856	SET	5408	5513	3.2e-24

2. Superfamily Domains:

Domain ID	Start Site	End Site	E-value
0041233	5379	5537	9.42e-49
0050474	1420	1480	5.09e-14
0050474	272	326	1.09e-12
0050470	1495	1564	1.24e-09
0050474	1374	1428	1.17e-08
0050474	215	274	6.48e-08
0035973	2022	2072	2.23e-06

Sequence Alignment (+)

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1. Variants are not present in 1000 Genomes!!

2. Mutants are not present in CCLE!!

4. Mutants are not present in COSMIC!!

4. Sequence alignment with homologus proteins:

Click on button to get Sequence alignment with Coverage, Consensus and Quality

  Sequence Profiles (+)

HMM
  With Uniprot database     With Mutants      With 1000 Genome Variants
PSSM
  With Uniprot database     With Mutants      With 1000 Genome Variant

Post Translational Modifications (+)

S. No.	Position	Amino acid	Type
1	1180	S	Phosphorylation
2	1195	T	Phosphorylation
3	1293	S	Phosphorylation
4	1294	S	Phosphorylation
5	1298	S	Phosphorylation
6	1331	S	Phosphorylation
7	1332	T	Phosphorylation
8	1334	S	Phosphorylation
9	1335	S	Phosphorylation
10	1606	S	Phosphorylation
11	1647	T	Phosphorylation
12	1671	S	Phosphorylation
13	1671	S	Phosphorylation
14	1819	T	Phosphorylation
15	1820	S	Phosphorylation
16	1820	S	Phosphorylation
17	1834	S	Phosphorylation
18	1854	S	Phosphorylation
19	1865	T	Phosphorylation
20	1865	T	Phosphorylation
21	2155	S	Phosphorylation
22	2155	S	Phosphorylation
23	2228	T	Phosphorylation
24	2240	T	Phosphorylation
25	2246	K	Acetylation
26	2246	K	Acetylation
27	2274	S	Phosphorylation
28	2274	S	Phosphorylation
29	2295	S	Phosphorylation
30	2296	S	Phosphorylation
31	2296	S	Phosphorylation
32	2298	S	Phosphorylation
33	2299	Y	Phosphorylation
34	2309	S	Phosphorylation
35	2309	S	Phosphorylation
36	2311	S	Phosphorylation
37	2311	S	Phosphorylation
38	2323	T	Phosphorylation
39	2323	T	Phosphorylation
40	2451	S	Phosphorylation
41	2468	K	Acetylation
42	2468	K	Acetylation
43	2640	S	Phosphorylation
44	27	S	Phosphorylation
45	2726	S	Phosphorylation
46	2742	T	Phosphorylation
47	29	T	Phosphorylation
48	2907	Y	Phosphorylation
49	3079	K	Acetylation
50	31	S	Phosphorylation
51	3121	K	Acetylation
52	3130	S	Phosphorylation
53	3130	S	Phosphorylation
54	3155	K	Acetylation
55	3155	K	Acetylation
56	3197	T	Phosphorylation
57	3197	T	Phosphorylation
58	3199	S	Phosphorylation
59	3199	S	Phosphorylation
60	3433	K	Acetylation
61	3433	K	Acetylation
62	3620	S	Phosphorylation
63	3624	S	Phosphorylation
64	3837	S	Phosphorylation
65	386	D	Caspase
66	4004	K	Acetylation
67	4011	S	Phosphorylation
68	4215	S	Phosphorylation
69	4215	S	Phosphorylation
70	4359	S	Phosphorylation
71	4465	K	Ubiquitylation
72	4465	K	Acetylation
73	4465	K	Acetylation
74	45	S	Phosphorylation
75	4516	K	Acetylation
76	4516	K	Acetylation
77	4621	T	Phosphorylation
78	4625	S	Phosphorylation
79	4629	T	Phosphorylation
80	468	S	Phosphorylation
81	4738	S	Phosphorylation
82	4738	S	Phosphorylation
83	4776	K	Acetylation
84	4776	K	Acetylation
85	4780	S	Phosphorylation
86	4783	S	Phosphorylation
87	4787	T	Phosphorylation
88	48	S	Phosphorylation
89	4822	S	Phosphorylation
90	4822	S	Phosphorylation
91	4849	S	Phosphorylation
92	5276	K	Acetylation
93	5276	K	Acetylation
94	5374	T	Phosphorylation
95	5498	S	Phosphorylation
96	5499	S	Phosphorylation
97	609	S	Phosphorylation
98	618	S	Phosphorylation
99	654	S	Phosphorylation
100	762	S	Phosphorylation

Proteomics DB	COSMIC	Gene Atlas	STRING	PIR
KMT2D	KMT2D	KMT2D	ENSP00000301067	O14686
QuickGO	HGNC	Ensembl Genome Browser	TreeFam	UniProt
O14686	KMT2D	ENSP00000301067	KMT2D	O14686
Expression Atlas	Protein Atlas	OMIM	IntAct	PharmGKB
KMT2D	ENSP00000301067	602113	O14686	PA30846

Modelled Structure	Structures available in PDB
	3UVK, 4ERQ,

dbEM

Protein: KMT2D

Mutation Data (+)

Copy number variation and expression profile (+)

Gene Essentiality Data (+)

Tertiary structure (+)

Structure Domains (+)

Sequence Alignment (+)

Sequence Profiles (+)

Post Translational Modifications (+)

Other Databases Link (+)