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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 AIFM1:

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
ENSG00000156709	AIFM1	1	262	33	ENSG00000156709	ENST00000460436	ENSP00000431222	apoptosis-inducing factor, mitochondrion-associated, 1 [Source:HGNC Symbol;Acc:8768]	X	129263337	129299861	-1	q26.1	129263337	129272015	AIFM1	AIFM1-004	HGNC Symbol	HGNC transcript name	10	42.98	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	9131	8768	AIFM1		27516

MSeqDR Master Exome Data Set M1: 138 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	X	129263372	T	C	ENST00000287295	ENSG00000156709	129263337	129299861	ENSP00000287295	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
2	X	129263372	T	C	ENST00000319908	ENSG00000156709	129263337	129299861	ENSP00000315122	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
3	X	129263372	T	C	ENST00000346424	ENSG00000156709	129263337	129299861	ENSP00000316320	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
4	X	129263372	T	C	ENST00000416073	ENSG00000156709	129263337	129299861	ENSP00000402535	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
5	X	129263372	T	C	ENST00000440263	ENSG00000156709	129263337	129299861	ENSP00000405879	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
6	X	129263372	T	C	ENST00000460436	ENSG00000156709	129263337	129299861	ENSP00000431222	AIFM1	-1	-	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
7	X	129263372	T	C	ENST00000527892	ENSG00000156709	129263337	129299861	ENSP00000435955	AIFM1	-1	-	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
8	X	129263372	T	C	ENST00000535724	ENSG00000156709	129263337	129299861	ENSP00000446113	AIFM1	-1	-	-	-	3'_UTR	rs189635584	0.0118	-	lod=14:251	-	-	-	hom	1
9	X	129263456	A	G	ENST00000287295	ENSG00000156709	129263337	129299861	ENSP00000287295	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	X	129263456	A	G	ENST00000319908	ENSG00000156709	129263337	129299861	ENSP00000315122	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	X	129263456	A	G	ENST00000346424	ENSG00000156709	129263337	129299861	ENSP00000316320	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	X	129263456	A	G	ENST00000416073	ENSG00000156709	129263337	129299861	ENSP00000402535	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	X	129263456	A	G	ENST00000440263	ENSG00000156709	129263337	129299861	ENSP00000405879	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	X	129263456	A	G	ENST00000460436	ENSG00000156709	129263337	129299861	ENSP00000431222	AIFM1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	X	129263456	A	G	ENST00000527892	ENSG00000156709	129263337	129299861	ENSP00000435955	AIFM1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	X	129263456	A	G	ENST00000535724	ENSG00000156709	129263337	129299861	ENSP00000446113	AIFM1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	X	129263501	G	A	ENST00000287295	ENSG00000156709	129263337	129299861	ENSP00000287295	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	X	129263501	G	A	ENST00000319908	ENSG00000156709	129263337	129299861	ENSP00000315122	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	X	129263501	G	A	ENST00000346424	ENSG00000156709	129263337	129299861	ENSP00000316320	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	X	129263501	G	A	ENST00000416073	ENSG00000156709	129263337	129299861	ENSP00000402535	AIFM1	-1	AIFM1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding AIFM1 X:129263337..129299861 region Gbrowse