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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 KIF1B:

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
ENSG00000054523	KIF1B	1	0	31	ENSG00000054523	ENST00000377093	ENSP00000366297	kinesin family member 1B [Source:HGNC Symbol;Acc:16636]	1	10270863	10441661	1	p36.22	10270863	10368655	KIF1B	KIF1B-003	HGNC Symbol	HGNC transcript name	10	41.99	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	23095	16636	KIF1B	NM_183416	27511

MSeqDR Master Exome Data Set M1: 511 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	1	10292359	C	+AT	ENST00000263934	ENSG00000054523	10270863	10441661	ENSP00000263934	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs34063243	-	-	-	-	-	-	het	2
2	1	10292359	C	+AT	ENST00000377081	ENSG00000054523	10270863	10441661	ENSP00000366284	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs34063243	-	-	-	-	-	-	het	2
3	1	10292359	C	+AT	ENST00000377083	ENSG00000054523	10270863	10441661	ENSP00000366287	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs34063243	-	-	-	-	-	-	het	2
4	1	10292359	C	+AT	ENST00000377086	ENSG00000054523	10270863	10441661	ENSP00000366290	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs34063243	-	-	-	-	-	-	het	2
5	1	10292359	C	+AT	ENST00000377093	ENSG00000054523	10270863	10441661	ENSP00000366297	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs34063243	-	-	-	-	-	-	het	2
6	1	10292382	T	C	ENST00000263934	ENSG00000054523	10270863	10441661	ENSP00000263934	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs200491456	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=752:677	-	-	-	het	1
7	1	10292382	T	C	ENST00000377081	ENSG00000054523	10270863	10441661	ENSP00000366284	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs200491456	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=752:677	-	-	-	het	1
8	1	10292382	T	C	ENST00000377083	ENSG00000054523	10270863	10441661	ENSP00000366287	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs200491456	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=752:677	-	-	-	het	1
9	1	10292382	T	C	ENST00000377086	ENSG00000054523	10270863	10441661	ENSP00000366290	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs200491456	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=752:677	-	-	-	het	1
10	1	10292382	T	C	ENST00000377093	ENSG00000054523	10270863	10441661	ENSP00000366297	KIF1B	1	KIF1B_HUMAN	-	-	5'_UTR	rs200491456	-	C=1/T=8599;C=0/T=4406;C=1/T=13005	lod=752:677	-	-	-	het	1
11	1	10318532	C	T	ENST00000263934	ENSG00000054523	10270863	10441661	ENSP00000263934	KIF1B	1	KIF1B_HUMAN	-	-	-19bp 3'_splice_site	rs184562782	0.00092	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
12	1	10318532	C	T	ENST00000377081	ENSG00000054523	10270863	10441661	ENSP00000366284	KIF1B	1	KIF1B_HUMAN	-	-	-19bp 3'_splice_site	rs184562782	0.00092	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
13	1	10318532	C	T	ENST00000377083	ENSG00000054523	10270863	10441661	ENSP00000366287	KIF1B	1	KIF1B_HUMAN	-	-	-19bp 3'_splice_site	rs184562782	0.00092	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
14	1	10318532	C	T	ENST00000377086	ENSG00000054523	10270863	10441661	ENSP00000366290	KIF1B	1	KIF1B_HUMAN	-	-	-19bp 3'_splice_site	rs184562782	0.00092	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
15	1	10318532	C	T	ENST00000377093	ENSG00000054523	10270863	10441661	ENSP00000366297	KIF1B	1	KIF1B_HUMAN	-	-	-19bp 3'_splice_site	rs184562782	0.00092	T=9/C=8591;T=0/C=4406;T=9/C=12997	-	-	-	-	het	1
16	1	10318543	C	-TT	ENST00000263934	ENSG00000054523	10270863	10441661	ENSP00000263934	KIF1B	1	KIF1B_HUMAN	-	-	-6bp 3'_splice_site	rs138324955	-	-	-	-	-	-	het	42
17	1	10318543	C	-TT	ENST00000377081	ENSG00000054523	10270863	10441661	ENSP00000366284	KIF1B	1	KIF1B_HUMAN	-	-	-6bp 3'_splice_site	rs138324955	-	-	-	-	-	-	het	42
18	1	10318543	C	-TT	ENST00000377083	ENSG00000054523	10270863	10441661	ENSP00000366287	KIF1B	1	KIF1B_HUMAN	-	-	-6bp 3'_splice_site	rs138324955	-	-	-	-	-	-	het	42
19	1	10318543	C	-TT	ENST00000377086	ENSG00000054523	10270863	10441661	ENSP00000366290	KIF1B	1	KIF1B_HUMAN	-	-	-6bp 3'_splice_site	rs138324955	-	-	-	-	-	-	het	42
20	1	10318543	C	-TT	ENST00000377093	ENSG00000054523	10270863	10441661	ENSP00000366297	KIF1B	1	KIF1B_HUMAN	-	-	-6bp 3'_splice_site	rs138324955	-	-	-	-	-	-	het	42

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Transcripts and variants in the surrounding KIF1B 1:10270863..10441661 region Gbrowse