dbEM

Protein: KMT2D

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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 (+)

$x"); for($d=2;$d<$l777;$d++) { fwrite($FP6,$row6[$d]); fwrite($FP7,"$row6[$d]"); fwrite($FP6,"\t"); } fwrite($FP6,"\n"); fwrite($FP7,""); } fclose($FP6); echo"

"; ##### table ##### $ptm_tr=file_get_contents("$dir/ptm"); if($ptm_tr != '') { echo""; include("$dir/ptm.html"); echo"

S. No. Position Amino acid Type

"; } else{echo"
Post translational modifications are not found!!

";} ?>

Other Databases Link (+)

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

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