ApoCanD

Mutation Data (+)

#	Name/ID	Cell Line/Tumor sample	Tissue of Origin	Reference ID	cDNA change	Protein change	Source	FATHMM Prediction	PolyPhen2 Prediction
1	134398	Tumour	LUNG	ENST00000246785	c.172A>T	p.I58L	COSMIC	NP	NP
2	BN03T	Tumour	LIVER	ENST00000246785	c.646C>G	p.L216V	COSMIC	NP	NP
3	Br27P	Tumour	CENTRAL NERVOUS SYSTEM	ENST00000246785	c.887C>T	p.T296I	COSMIC	NP	NP
4	H2073	Cell Line	LUNG	ENST00000246785	c.592T>G	p.L198V	COSMIC	NP	NP
5	M14	Cell Line	HAEMATOPOIETIC AND LYMPHOID TISSUE	ENST00000246785	c.29C>T	p.P10L	COSMIC	NP	NP
6	MDA-MB-435	Cell Line	HAEMATOPOIETIC AND LYMPHOID TISSUE	ENST00000246785	c.29C>T	p.P10L	COSMIC	NP	NP
7	MDA-N	Cell Line	HAEMATOPOIETIC AND LYMPHOID TISSUE	ENST00000246785	c.29C>T	p.P10L	COSMIC	NP	NP
8	TCGA-49-4490-01	Tumour	LUNG	ENST00000246785	c.478C>T	p.R160C	COSMIC	NP	NP
9	TCGA-AG-A02N-01	Tumour	LARGE INTESTINE	ENST00000246785	c.439_440insC	p.S149fs*2	COSMIC	NP	NP
10	TCGA-AN-A0FL-01	Tumour	BREAST	ENST00000246785	c.58G>T	p.E20*	COSMIC	NP	NP
11	TCGA-AP-A051-01	Tumour	ENDOMETRIUM	ENST00000246785	c.420C>T	p.C140C	COSMIC	NP	NP
12	TCGA-AP-A0LI-01	Tumour	ENDOMETRIUM	ENST00000246785	c.547G>C	p.E183Q	COSMIC	NP	NP
13	TCGA-B5-A0JV-01	Tumour	ENDOMETRIUM	ENST00000246785	c.895G>A	p.G299R	COSMIC	NP	NP
14	TCGA-BS-A0UV-01	Tumour	ENDOMETRIUM	ENST00000246785	c.738C>T	p.F246F	COSMIC	NP	NP
15	TCGA-CJ-5672-01	Tumour	KIDNEY	ENST00000246785	c.108G>T	p.P36P	COSMIC	NP	NP
16	TCGA-D1-A167-01	Tumour	ENDOMETRIUM	ENST00000246785	c.801C>T	p.P267P	COSMIC	NP	NP
17	YUBER	Tumour	SKIN	ENST00000246785	c.514C>A	p.P172T	COSMIC	NP	NP
18	YUDAB	Tumour	SKIN	ENST00000246785	c.587C>T	p.P196L	COSMIC	NP	NP
19	YUGOE	Tumour	SKIN	ENST00000246785	c.122G>A	p.W41*	COSMIC	NP	NP
20	cSCCP1	Tumour	SKIN	ENST00000246785	c.46G>A	p.G16S	COSMIC	NP	NP
21	A2058	Cell Line	SKIN	ENST00000246785	c.963C>T	p.I321I	COSMIC	NP	NP
22	BE13	Cell Line	HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	ENST00000246785	c.502+2T>C	p.?	COSMIC	NP	NP
23	CMK	Cell Line	HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	ENST00000246785	c.738C>T	p.F246F	COSMIC	NP	NP
24	DAOY	Cell Line	CENTRAL_NERVOUS_SYSTEM	ENST00000246785	c.165T>C	p.V55V	COSMIC	NP	NP
25	HCC44	Cell Line	LUNG	ENST00000246785	c.541C>T	p.R181W	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING
26	IGR1	Cell Line	SKIN	ENST00000246785	c.51C>T	p.F17F	COSMIC	NP	NP
27	KARPAS45	Cell Line	HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	ENST00000246785	c.756G>A	p.L252L	COSMIC	NP	NP
28	KATOIII	Cell Line	STOMACH	ENST00000246785	c.75T>C	p.R25R	COSMIC	NP	NP
29	KM12	Cell Line	LARGE_INTESTINE	ENST00000246785	c.365C>A	p.P122H	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING
30	LN229	Cell Line	CENTRAL_NERVOUS_SYSTEM	ENST00000246785	c.991T>C	p.L331L	COSMIC	NP	NP
31	LS411N	Cell Line	LARGE_INTESTINE	ENST00000246785	c.446C>A	p.S149Y	COSMIC	PASSENGER/OTHER	BENIGN
32	M14	Cell Line	SKIN	ENST00000246785	c.29C>T	p.P10L	COSMIC	PASSENGER/OTHER	BENIGN
33	M14	Cell Line	SKIN	ENST00000246785	c.30C>T	p.P10P	COSMIC	NP	NP
34	MEWO	Cell Line	SKIN	ENST00000246785	c.24C>T	p.F8F	COSMIC	NP	NP
35	MFE319	Cell Line	ENDOMETRIUM	ENST00000246785	c.33A>G	p.L11L	COSMIC	NP	NP
36	NCIH2342	Cell Line	LUNG	ENST00000246785	c.596A>C	p.Q199P	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING
37	NCIH716	Cell Line	LARGE_INTESTINE	ENST00000246785	c.478C>T	p.R160C	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING
38	NO10	Cell Line	CENTRAL_NERVOUS_SYSTEM	ENST00000246785	c.24C>T	p.F8F	COSMIC	NP	NP
39	OMC1	Cell Line	CERVIX	ENST00000246785	c.106C>A	p.P36T	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING
40	OSRC2	Cell Line	KIDNEY	ENST00000246785	c.54G>T	p.R18R	COSMIC	NP	NP
41	SARC9371	Cell Line	BONE	ENST00000246785	c.52C>T	p.R18W	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING
42	SKMEL28	Cell Line	SKIN	ENST00000246785	c.200G>C	p.R67T	COSMIC	PASSENGER/OTHER	BENIGN
43	SNU1040	Cell Line	LARGE_INTESTINE	ENST00000246785	c.54G>T	p.R18R	COSMIC	NP	NP
44	SW872	Cell Line	SOFT_TISSUE	ENST00000246785	c.51C>T	p.F17F	COSMIC	NP	NP
45	SW872	Cell Line	SOFT_TISSUE	ENST00000246785	c.52C>T	p.R18W	COSMIC	PASSENGER/OTHER	PROBABLY DAMAGING

*NP: Not Predicted

Copy number variation and expression profile (+)

Tissue Type	Mean Expression Value	Median Expression Value	Mean CNV	Median CNV

AUTONOMIC GANGLIA	5.8024	5.9101	-0.0820	-0.0355
BILIARY TRACT	8.5214	8.8442	0.2426	0.2693
BONE	7.5585	7.8404	-0.0339	-0.0006187
BREAST	8.0451	8.12775	0.0828	0.076415
CENTRAL NERVOUS SYSTEM	7.6582	7.7669	-0.0311	-0.0244
ENDOMETRIUM	8.5327	8.6157	0.1083	0.05057
HAEMATOPOIETIC AND LYMPHOID TISSUE	8.3080	8.3556	0.0522	0.0128
KIDNEY	7.6063	7.6143	0.0031	0.0294
LARGE INTESTINE	8.1010	8.15195	-0.0071	-0.010745
LIVER	8.3967	8.4052	0.1425	0.121
LUNG	7.3445	7.7406	0.0061	0.0102815
OESOPHAGUS	7.9308	7.79865	0.0372	0.081115
OVARY	8.1406	8.2147	0.0452	0.03351
PANCREAS	7.8683	7.9431	-0.0257	-0.0272
PLEURA	7.9737	7.8588	0.0316	0.06694
PROSTATE	7.7428	8.12095	-0.0571	-0.012
SALIVARY GLAND	7.4585	7.4585	0.0672	0.06719
SKIN	7.8018	7.7811	-0.0420	-0.006964
SMALL INTESTINE	9.0198	9.0198	0.0544	0.0544
SOFT TISSUE	8.2887	8.2412	0.0171	0.0184
STOMACH	8.2267	8.378	0.1143	0.04443
THYROID	7.8663	7.86625	0.1401	0.09035
UPPER AERODIGESTIVE TRACT	7.6040	7.54695	-0.0752	-0.033386
URINARY TRACT	8.2816	8.5438	-0.0012	-0.0188

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 (+)

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Modelled Structure	Structures available in PDB
	Structure is not available in PDB

Structure Domains (+)

1. PFAM domains are not present!!

2. Superfaimly domains are not present!!

Sequence Alignment (+)

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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 (+)

HMM
With Uniprot database	With Mutants	With 1000 Genome Variants

PSSM
With Uniprot database	With Mutants	With 1000 Genome Variant

Post Translational Modifications (+)

Post translational modifications are not found!!

Proteomics DB	COSMIC	Gene Atlas	STRING	PIR
BCL2L12	BCL2L12	BCL2L12	NA	Q9HB09
QuickGO	HGNC	Ensembl Genome Browser	TreeFam	UniProt
Q9HB09	BCL2L12	NA	BCL2L12	Q9HB09
Expression Atlas	Protein Atlas	OMIM	IntAct	PharmGKB
BCL2L12	NA	610837	Q9HB09	PA25306

Protein: BCL2L12