ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
8-104153127-T-C	ENST00000438105	p.Met1?	Start Lost	0	0	0	rs1421099231
8-104153128-G-A	ENST00000438105	p.Met1?	Start Lost	0	0	0	rs1182189771
8-104153129-G-A	ENST00000438105	p.Gly2Ser	Missense Variant	0	0	0	rs1384975771
8-104153132-T-C	ENST00000438105	p.Cys3Arg	Missense Variant	0	0	0	rs1445806128
8-104153134-C-A	ENST00000438105	p.Cys3Ter	Stop Gained	0	0	0	rs747849722
8-104153134-C-T	ENST00000438105	p.Cys3Cys	Synonymous Variant	0	0	0	rs747849722
8-104153137-C-T	ENST00000438105	p.Gly4Gly	Synonymous Variant	2350	30724	0.076487	rs3736043
8-104153138-G-A	ENST00000438105	p.Gly5Arg	Missense Variant	0	0	0	rs772676765
8-104153139-G-A	ENST00000438105	p.Gly5Glu	Missense Variant	0	0	0	rs1298403314
8-104153140-G-A	ENST00000438105	p.Gly5Gly	Synonymous Variant	1	30742	0.000033	rs994283387
8-104153141-A-G	ENST00000438105	p.Ser6Gly	Missense Variant	0	0	0	rs959387521
8-104153143-C-A	ENST00000438105	p.Ser6Arg	Missense Variant	0	0	0	rs762540525
8-104153144-C-T	ENST00000438105	p.Arg7Trp	Missense Variant	0	0	0	rs1383220216
8-104153147-G-A	ENST00000438105	p.Ala8Thr	Missense Variant	0	0	0	rs1248107141
8-104153148-C-A	ENST00000438105	p.Ala8Glu	Missense Variant	0	0	0	rs905433869
8-104153149-G-T	ENST00000438105	p.Ala8Ala	Synonymous Variant	1	30812	0.000032	rs375144018
8-104153151-A-T	ENST00000438105	p.Asp9Val	Missense Variant	6	30742	0.000195	rs776048027
8-104153154-C-T	ENST00000438105	p.Ala10Val	Missense Variant	0	0	0	rs1226874301
8-104153158-C-A	ENST00000438105	p.Ile11Ile	Synonymous Variant	0	0	0	rs761135936
8-104153161-G-A	ENST00000438105	p.Glu12Glu	Synonymous Variant	1	30954	0.000032	rs962097545

Showing 1 to 20 of 75 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
BAALC	Q8WXS3	Phosphorylation	158	T158-p	RMPAKEVtINVTDSI	19.22	50774001

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Missense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin
BAALC_ENST00000438105	ENST00000438105	TCGA-CN-A640-01	upper_aerodigestive_tract	carcinoma	53493083	c.*141T>C	p.?	Unknown	NEUTRAL	.02063	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	PCSI_0082_Pa_P_526	pancreas	carcinoma	53494152	c.161-36680G>A	p.?	Unknown	NEUTRAL	.00111	Confirmed somatic variant	PMID: N/A	NS
BAALC_ENST00000438105	ENST00000438105	PD11384a	breast	carcinoma	53495220	c.161-16043G>C	p.?	Unknown	NEUTRAL	.00273	Confirmed somatic variant	PMID: N/A	NS
BAALC_ENST00000438105	ENST00000438105	8066067	pancreas	carcinoma	53493519	c.161-27292A>C	p.?	Unknown	NEUTRAL	.00636	Confirmed somatic variant	PMID: N/A	NS
BAALC_ENST00000438105	ENST00000438105	DN12035	breast	carcinoma	53493002	c.161-35304G>T	p.?	Unknown	NEUTRAL	.02294	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	TCGA-D3-A5GO-06	skin	malignant_melanoma	53493057	c.161-15052T>G	p.?	Unknown	NEUTRAL	.03836	Confirmed somatic variant	PMID: N/A	NS
BAALC_ENST00000438105	ENST00000438105	PD9467a	breast	carcinoma	53493113	c.161-29278C>T	p.?	Unknown	NEUTRAL	.00093	Confirmed somatic variant	PMID: N/A	NS
BAALC_ENST00000438105	ENST00000438105	RK079_C01	liver	carcinoma	53495995	c.160+1988A>T	p.?	Unknown	NEUTRAL	.09375	Variant of unknown origin	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	YYY-549T	stomach	carcinoma	53495908	c.*2295T>C	p.?	Unknown		.59837	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	PCSI_0528_Pa_P_526	pancreas	carcinoma	53495199	c.161-16960T>C	p.?	Unknown	NEUTRAL	.00775	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	ZLH-121T	stomach	carcinoma	53492823	c.161-362G>T	p.?	Unknown	NEUTRAL	.00493	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	tumor_4139212	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	53493025	c.161-15382C>T	p.?	Unknown	NEUTRAL	.01632	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	sysucc-1408T	large_intestine	carcinoma	53494722	c.160+12555G>A	p.?	Unknown	NEUTRAL	.08408	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	LP6007544-DNA_A01	oesophagus	carcinoma	53494261	c.160+34763G>A	p.?	Unknown	NEUTRAL	.00023	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	LP6008269-DNA_F07	oesophagus	carcinoma	53494384	c.160+24203G>C	p.?	Unknown	NEUTRAL	.01064	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	8052570	pancreas	carcinoma	53493593	c.160+28863C>G	p.?	Unknown	NEUTRAL	.00255	Confirmed somatic variant	PMID: N/A	NS
BAALC_ENST00000438105	ENST00000438105	SJEPD035_R	central_nervous_system	glioma	53494427	c.161-8367G>A	p.?	Unknown	NEUTRAL	.07138	Confirmed somatic variant	PMID: 24553141	primary
BAALC_ENST00000438105	ENST00000438105	PCSI_0085_Pa_P	pancreas	carcinoma	53492261	c.161-610C>T	p.?	Unknown	NEUTRAL	.00236	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	PD9585a	breast	carcinoma	53495351	c.161-17223C>G	p.?	Unknown	NEUTRAL	.02046	Confirmed somatic variant	PMID: N/A	primary
BAALC_ENST00000438105	ENST00000438105	PD11336a	breast	carcinoma	53493548	c.160+15509G>A	p.?	Unknown	NEUTRAL	.06952	Confirmed somatic variant	PMID: N/A	NS

Showing 1 to 20 of 202 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF06989	BAALC_N	BAALC N-terminus	1-50			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.696	0.241
Acute Myeloid Leukemia, M1	Neoplasms ;	0.696	0.241
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.696	0.241
NO RESULT FOUND

Description:	BAALC, MAP3K1 and KLF4 binding [Source:NCBI gene;Acc:694238]
Synonyms:
Other ID(s):	ENSMMUG00000019398
Protein Accession Numbers:	XP_015001218, NP_001253572
Statistics:	gnomAD(75) COSMIC(202) PTM(1)

Classification of Clinicial Significance of ClinVar Data