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

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
8-104153127-T-C	ENST00000297574	p.Met1?	Start Lost	0	0	0	rs1421099231
8-104153128-G-A	ENST00000297574	p.Met1?	Start Lost	0	0	0	rs1182189771
8-104153129-G-A	ENST00000297574	p.Gly2Ser	Missense Variant	0	0	0	rs1384975771
8-104153132-T-C	ENST00000297574	p.Cys3Arg	Missense Variant	0	0	0	rs1445806128
8-104153134-C-A	ENST00000297574	p.Cys3Ter	Stop Gained	0	0	0	rs747849722
8-104153134-C-T	ENST00000297574	p.Cys3Cys	Synonymous Variant	0	0	0	rs747849722
8-104153137-C-T	ENST00000297574	p.Gly4Gly	Synonymous Variant	2350	30724	0.076487	rs3736043
8-104153138-G-A	ENST00000297574	p.Gly5Arg	Missense Variant	0	0	0	rs772676765
8-104153139-G-A	ENST00000297574	p.Gly5Glu	Missense Variant	0	0	0	rs1298403314
8-104153140-G-A	ENST00000297574	p.Gly5Gly	Synonymous Variant	1	30742	0.000033	rs994283387
8-104153141-A-G	ENST00000297574	p.Ser6Gly	Missense Variant	0	0	0	rs959387521
8-104153143-C-A	ENST00000297574	p.Ser6Arg	Missense Variant	0	0	0	rs762540525
8-104153144-C-T	ENST00000297574	p.Arg7Trp	Missense Variant	0	0	0	rs1383220216
8-104153147-G-A	ENST00000297574	p.Ala8Thr	Missense Variant	0	0	0	rs1248107141
8-104153148-C-A	ENST00000297574	p.Ala8Glu	Missense Variant	0	0	0	rs905433869
8-104153149-G-T	ENST00000297574	p.Ala8Ala	Synonymous Variant	1	30812	0.000032	rs375144018
8-104153151-A-T	ENST00000297574	p.Asp9Val	Missense Variant	6	30742	0.000195	rs776048027
8-104153154-C-T	ENST00000297574	p.Ala10Val	Missense Variant	0	0	0	rs1226874301
8-104153158-C-A	ENST00000297574	p.Ile11Ile	Synonymous Variant	0	0	0	rs761135936
8-104153161-G-A	ENST00000297574	p.Glu12Glu	Synonymous Variant	1	30954	0.000032	rs962097545

Showing 1 to 20 of 171 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 - Coding Silent

Substitution - Missense

Substitution - Nonsense

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	Position
BAALC_ENST00000297574	ENST00000297574	TCGA-CN-A640-01	upper_aerodigestive_tract	carcinoma	24873575	c.*35T>C	p.?	Unknown	NEUTRAL	.02063	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	PD11384a	breast	carcinoma	24876192	c.266-973G>C	p.?	Unknown	NEUTRAL	.00273	Confirmed somatic variant	PMID: N/A	NS	0
BAALC_ENST00000297574	ENST00000297574	PCSI_0082_Pa_P_526	pancreas	carcinoma	24874772	c.161-9349G>A	p.?	Unknown	NEUTRAL	.00111	Confirmed somatic variant	PMID: N/A	NS	0
BAALC_ENST00000297574	ENST00000297574	8066067	pancreas	carcinoma	24873922	c.200A>C	p.D67A	Substitution - Missense	NEUTRAL	.00636	Confirmed somatic variant	PMID: N/A	NS	67
BAALC_ENST00000297574	ENST00000297574	TCGA-D3-A5GO-06	skin	malignant_melanoma	24873509	c.284T>G	p.L95R	Substitution - Missense	NEUTRAL	.03836	Confirmed somatic variant	PMID: N/A	NS	95
BAALC_ENST00000297574	ENST00000297574	DN12035	breast	carcinoma	24873469	c.161-7973G>T	p.?	Unknown	NEUTRAL	.02294	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	PD9467a	breast	carcinoma	24873599	c.161-1947C>T	p.?	Unknown	NEUTRAL	.00093	Confirmed somatic variant	PMID: N/A	NS	0
BAALC_ENST00000297574	ENST00000297574	PCSI_0528_Pa_P_526	pancreas	carcinoma	24876166	c.266-1890T>C	p.?	Unknown	NEUTRAL	.00775	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	RK079_C01	liver	carcinoma	24876956	c.160+1988A>T	p.?	Unknown	NEUTRAL	.09375	Variant of unknown origin	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	LP6007544-DNA_A01	oesophagus	carcinoma	24874932	c.161-24838G>A	p.?	Unknown	NEUTRAL	.00023	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	ZLH-121T	stomach	carcinoma	24873282	c.433-362G>T	p.?	Unknown	NEUTRAL	.00493	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	8052570	pancreas	carcinoma	24873971	c.160+28863C>G	p.?	Unknown	NEUTRAL	.00255	Confirmed somatic variant	PMID: N/A	NS	0
BAALC_ENST00000297574	ENST00000297574	sysucc-1408T	large_intestine	carcinoma	24875405	c.160+12555G>A	p.?	Unknown	NEUTRAL	.08408	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	LP6008269-DNA_F07	oesophagus	carcinoma	24875127	c.160+24203G>C	p.?	Unknown	NEUTRAL	.01064	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	tumor_4139212	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	24873487	c.266-312C>T	p.?	Unknown	NEUTRAL	.01632	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	SJEPD035_R	central_nervous_system	glioma	24875222	c.432+6537G>A	p.?	Unknown	NEUTRAL	.07138	Confirmed somatic variant	PMID: 24553141	primary	0
BAALC_ENST00000297574	ENST00000297574	ESO-859	oesophagus	carcinoma	24876025	c.395C>A	p.P132H	Substitution - Missense	PATHOGENIC	.81649	Variant of unknown origin	PMID: 23525077	primary	132
BAALC_ENST00000297574	ENST00000297574	PCSI_0085_Pa_P	pancreas	carcinoma	24873038	c.433-610C>T	p.?	Unknown	NEUTRAL	.00236	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	PCSI_0099_Pa_P	pancreas	carcinoma	24874825	c.160+12793C>G	p.?	Unknown	NEUTRAL	.41196	Confirmed somatic variant	PMID: N/A	primary	0
BAALC_ENST00000297574	ENST00000297574	PD9585a	breast	carcinoma	24876322	c.266-2153C>G	p.?	Unknown	NEUTRAL	.02046	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 267 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			Mus musculus

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:HGNC Symbol;Acc:HGNC:14333]
Synonyms:
Other ID(s):	ENSG00000164929, HGNC:14333
Protein Accession Numbers:	ENST00000438105, ENST00000306391, NP_001351803, ENST00000330955, ENST00000297574, NP_001019543, ENST00000309982, NP_079088
Statistics:	gnomAD(171) COSMIC(267) PTM(1)

Classification of Clinicial Significance of ClinVar Data