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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term KATNB1:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000140854	KATNB1	0	0	3	ENSG00000140854	ENST00000562592	ENSP00000455350	katanin p80 (WD repeat containing) subunit B 1 [Source:HGNC Symbol;Acc:6217]	16	57769642	57791162	1	q21	57769651	57785967	KATNB1	KATNB1-003	HGNC Symbol	HGNC transcript name	10	56.59	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	10300	6217	KATNB1		27514
ENSG00000268329	KATNB1	0	0	3	ENSG00000268329	ENST00000599071		katanin p80 (WD repeat containing) subunit B 1 [Source:HGNC Symbol;Acc:6217]	HG1208_PATCH	57769642	57791162	1	q21	57789360	57790796	KATNB1	KATNB1-007	HGNC Symbol	HGNC transcript name	10	56.59	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	10300	6217	KATNB1		0

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MSeqDR Master Exome Data Set M1: 207 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	16	57770732	C	T	ENST00000566785	ENSG00000140854	57769642	57791162	ENSP00000457347	KATNB1	1	-	-	-	5'_UTR	rs874993	0.2049	-	-	-	-	-	het	31
2	16	57770732	C	T	ENST00000566785	ENSG00000140854	57769642	57791162	ENSP00000457347	KATNB1	1	-	-	-	5'_UTR	rs874993	0.2049	-	-	-	-	-	hom	2
3	16	57771043	T	A	ENST00000379661	ENSG00000140854	57769642	57791162	ENSP00000368982	KATNB1	1	KTNB1_HUMAN	-	-	5'_UTR	rs190894237	0.0029	-	lod=186:528	-	-	-	het	3
4	16	57771043	T	A	ENST00000566611	ENSG00000140854	57769642	57791162	-	KATNB1	1	-	c.407T>A	p.V136E	non-syn	rs190894237	0.0029	-	lod=186:528	-	-	-	het	3
5	16	57771043	T	A	ENST00000566785	ENSG00000140854	57769642	57791162	ENSP00000457347	KATNB1	1	-	-	-	5'_UTR	rs190894237	0.0029	-	lod=186:528	-	-	-	het	3
6	16	57771043	T	A	ENST00000569627	ENSG00000140854	57769642	57791162	ENSP00000457046	KATNB1	1	-	-	-	5'_UTR	rs190894237	0.0029	-	lod=186:528	-	-	-	het	3
7	16	57771065	T	C	ENST00000379661	ENSG00000140854	57769642	57791162	ENSP00000368982	KATNB1	1	KTNB1_HUMAN	-	-	5'_UTR	rs113501175	0.0146	-	lod=186:528	-	-	-	het	18
8	16	57771065	T	C	ENST00000566611	ENSG00000140854	57769642	57791162	-	KATNB1	1	-	c.429T>C	p.D143D	syn	rs113501175	0.0146	-	lod=186:528	-	-	-	het	18
9	16	57771065	T	C	ENST00000566785	ENSG00000140854	57769642	57791162	ENSP00000457347	KATNB1	1	-	-	-	5'_UTR	rs113501175	0.0146	-	lod=186:528	-	-	-	het	18
10	16	57771065	T	C	ENST00000569627	ENSG00000140854	57769642	57791162	ENSP00000457046	KATNB1	1	-	-	-	5'_UTR	rs113501175	0.0146	-	lod=186:528	-	-	-	het	18
11	16	57771126	G	T	ENST00000379661	ENSG00000140854	57769642	57791162	ENSP00000368982	KATNB1	1	KTNB1_HUMAN	-	-	5'_UTR	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	het	195
12	16	57771126	G	T	ENST00000379661	ENSG00000140854	57769642	57791162	ENSP00000368982	KATNB1	1	KTNB1_HUMAN	-	-	5'_UTR	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	hom	16
13	16	57771126	G	T	ENST00000562592	ENSG00000140854	57769642	57791162	ENSP00000455350	KATNB1	1	-	-	-	-12bp 3'_splice_site	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	het	195
14	16	57771126	G	T	ENST00000562592	ENSG00000140854	57769642	57791162	ENSP00000455350	KATNB1	1	-	-	-	-12bp 3'_splice_site	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	hom	16
15	16	57771126	G	T	ENST00000563127	ENSG00000140854	57769642	57791162	-	KATNB1	1	-	c.23G>T	p.G8V	non-syn	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	het	195
16	16	57771126	G	T	ENST00000563127	ENSG00000140854	57769642	57791162	-	KATNB1	1	-	c.23G>T	p.G8V	non-syn	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	hom	16
17	16	57771126	G	T	ENST00000566611	ENSG00000140854	57769642	57791162	-	KATNB1	1	-	c.490G>T	p.V164L	non-syn	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	het	195
18	16	57771126	G	T	ENST00000566611	ENSG00000140854	57769642	57791162	-	KATNB1	1	-	c.490G>T	p.V164L	non-syn	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	hom	16
19	16	57771126	G	T	ENST00000566785	ENSG00000140854	57769642	57791162	ENSP00000457347	KATNB1	1	-	-	-	5'_UTR	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	het	195
20	16	57771126	G	T	ENST00000566785	ENSG00000140854	57769642	57791162	ENSP00000457347	KATNB1	1	-	-	-	5'_UTR	rs1061546	0.11373	T=1278/G=7322;T=826/G=3570;T=2104/G=10892	-	-	-	-	hom	16

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding KATNB1 16:57769642..57791162 region Gbrowse