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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 IFT122:

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
ENSG00000163913	IFT122	0	0	22	ENSG00000163913	ENST00000448668		intraflagellar transport 122 homolog (Chlamydomonas) [Source:HGNC Symbol;Acc:13556]	3	129158968	129239198	1	q21.3	129200373	129202735	IFT122	IFT122-030	HGNC Symbol	HGNC transcript name	32	47.55	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	101927266	13556	IFT122		27517

MSeqDR Master Exome Data Set M1: 914 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	3	129158968	A	G	ENST00000347300	ENSG00000163913	129158968	129239198	ENSP00000323973	IFT122	1	IF122_HUMAN	-	-	5'_UTR	rs3138334	0.0757	-	-	-	-	-	het	5
2	3	129158989	G	A	ENST00000296266	ENSG00000163913	129158968	129239198	ENSP00000296266	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
3	3	129158989	G	A	ENST00000347300	ENSG00000163913	129158968	129239198	ENSP00000323973	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
4	3	129159073	G	A	ENST00000296266	ENSG00000163913	129158968	129239198	ENSP00000296266	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	lod=124:484	-	-	-	het	1
5	3	129159073	G	A	ENST00000347300	ENSG00000163913	129158968	129239198	ENSP00000323973	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	lod=124:484	-	-	-	het	1
6	3	129159073	G	A	ENST00000507564	ENSG00000163913	129158968	129239198	ENSP00000425536	IFT122	1	-	-	-	5'_UTR	NA	-	-	lod=124:484	-	-	-	het	1
7	3	129159090	G	T	ENST00000296266	ENSG00000163913	129158968	129239198	ENSP00000296266	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
8	3	129159090	G	T	ENST00000347300	ENSG00000163913	129158968	129239198	ENSP00000323973	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
9	3	129159090	G	T	ENST00000349441	ENSG00000163913	129158968	129239198	ENSP00000324165	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
10	3	129159090	G	T	ENST00000431818	ENSG00000163913	129158968	129239198	ENSP00000410946	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
11	3	129159090	G	T	ENST00000504021	ENSG00000163913	129158968	129239198	ENSP00000422179	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
12	3	129159090	G	T	ENST00000507564	ENSG00000163913	129158968	129239198	ENSP00000425536	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
13	3	129159090	G	T	ENST00000512220	ENSG00000163913	129158968	129239198	ENSP00000421953	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	8
14	3	129159096	T	G	ENST00000296266	ENSG00000163913	129158968	129239198	ENSP00000296266	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
15	3	129159096	T	G	ENST00000347300	ENSG00000163913	129158968	129239198	ENSP00000323973	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
16	3	129159096	T	G	ENST00000349441	ENSG00000163913	129158968	129239198	ENSP00000324165	IFT122	1	IF122_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
17	3	129159096	T	G	ENST00000431818	ENSG00000163913	129158968	129239198	ENSP00000410946	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
18	3	129159096	T	G	ENST00000504021	ENSG00000163913	129158968	129239198	ENSP00000422179	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
19	3	129159096	T	G	ENST00000507564	ENSG00000163913	129158968	129239198	ENSP00000425536	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3
20	3	129159096	T	G	ENST00000512220	ENSG00000163913	129158968	129239198	ENSP00000421953	IFT122	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	3

** 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 IFT122 3:129158968..129239198 region Gbrowse