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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 AIFM2:

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
ENSG00000042286	AIFM2	1	0	0	ENSG00000042286	ENST00000373248	ENSP00000362345	apoptosis-inducing factor, mitochondrion-associated, 2 [Source:HGNC Symbol;Acc:21411]	10	71857979	71892690	-1	q22.1	71857979	71883858	AIFM2	AIFM2-002	HGNC Symbol	HGNC transcript name	3	50.25	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	84883	21411	AIFM2		27525

MSeqDR Master Exome Data Set M1: 153 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	10	71858030	A	-AAAG	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs145493652	-	-	-	-	-	-	het	3
2	10	71858043	A	-GAGG	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	10	71858054	G	C	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs58049711	0.1397	-	-	-	-	-	het	6
4	10	71858054	G	C	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs58049711	0.1397	-	-	-	-	-	hom	1
5	10	71858068	A	-AGAG	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs202040141	-	-	-	-	-	-	het	14
6	10	71858126	A	-GAAG	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs151236785	-	-	-	-	-	-	het	2
7	10	71859168	T	C	ENST00000373248	ENSG00000042286	71857979	71892690	ENSP00000362345	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs7094103	0.3791	-	-	-	-	-	het	2
8	10	71872135	G	A	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs2394655	0.0938	-	-	-	-	-	het	37
9	10	71872135	G	A	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs2394655	0.0938	-	-	-	-	-	hom	1
10	10	71872181	C	G	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
11	10	71872404	G	A	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs41277968	0.1563	-	-	-	-	-	het	117
12	10	71872404	G	A	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs41277968	0.1563	-	-	-	-	-	hom	12
13	10	71872410	C	T	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs12251577	0.248	-	-	-	-	-	hom	17
14	10	71872410	C	T	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs12251577	0.248	-	-	-	-	-	het	138
15	10	71872460	C	A	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	10	71872544	T	G	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs41277970	0.00279	-	-	-	-	-	het	1
17	10	71872558	A	C	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs41277972	0.01664	-	-	-	-	-	het	31
18	10	71872572	G	T	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs10823484	0.283	-	-	-	-	-	het	142
19	10	71872572	G	T	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs10823484	0.283	-	-	-	-	-	hom	16
20	10	71872718	T	C	ENST00000307864	ENSG00000042286	71857979	71892690	ENSP00000312370	AIFM2	-1	AIFM2_HUMAN	-	-	3'_UTR	rs41277974	0.0848	-	-	-	-	-	het	35

** 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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding AIFM2 10:71857979..71892690 region Gbrowse