NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:16287]
2
69622882
69664760
-1
p13.3
69622882
69664760
NFU1
NFU1-001
HGNC Symbol
HGNC transcript name
10
41.47
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
27247
16287
NFU1
NM_001002755
27508
MSeqDR Master Exome Data Set M1: 113 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
2
69622890
C
+T
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
4
2
2
69622940
C
T
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
3
2
69623069
T
C
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
4
2
69623071
G
+A
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
5
2
69623136
A
G
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
3'_UTR
rs10170036
0.56492
-
-
-
-
-
het
341
6
2
69623136
A
G
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
3'_UTR
rs10170036
0.56492
-
-
-
-
-
hom
246
7
2
69626359
A
-G
ENST00000474230
ENSG00000169599
69622882
69664760
ENSP00000418882
NFU1
-1
-
-
-
+11bp 5'_splice_site
NA
-
-
-
-
-
-
het
3
8
2
69626454
T
C
ENST00000474230
ENSG00000169599
69622882
69664760
ENSP00000418882
NFU1
-1
-
-
-
3'_UTR
rs185193872
0.0037
-
-
-
-
-
het
2
9
2
69626488
C
T
ENST00000474230
ENSG00000169599
69622882
69664760
ENSP00000418882
NFU1
-1
-
c.378G>A
p.Q126Q
syn
NA
-
-
-
-
-
-
het
21
10
2
69626520
G
C
ENST00000474230
ENSG00000169599
69622882
69664760
ENSP00000418882
NFU1
-1
-
-
-
-6bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
11
2
69626529
C
-AAAA
ENST00000474230
ENSG00000169599
69622882
69664760
ENSP00000418882
NFU1
-1
-
-
-
-15bp 3'_splice_site
NA
-
-
-
-
-
-
het
2
12
2
69627686
A
G
ENST00000303698
ENSG00000169599
69622882
69664760
ENSP00000306965
NFU1
-1
NFU1_HUMAN
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
13
2
69627686
A
G
ENST00000394305
ENSG00000169599
69622882
69664760
ENSP00000377842
NFU1
-1
NFU1_HUMAN
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
14
2
69627686
A
G
ENST00000410022
ENSG00000169599
69622882
69664760
ENSP00000387219
NFU1
-1
NFU1_HUMAN
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
15
2
69627686
A
G
ENST00000450796
ENSG00000169599
69622882
69664760
ENSP00000415102
NFU1
-1
-
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
16
2
69627686
A
G
ENST00000462320
ENSG00000169599
69622882
69664760
ENSP00000418598
NFU1
-1
NFU1_HUMAN
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
17
2
69627686
A
G
ENST00000474230
ENSG00000169599
69622882
69664760
ENSP00000418882
NFU1
-1
-
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
18
2
69627686
A
G
ENST00000484177
ENSG00000169599
69622882
69664760
ENSP00000417693
NFU1
-1
-
-
-
-16bp 3'_splice_site
NA
-
-
-
-
-
-
het
3
19
2
69642390
A
G
ENST00000303698
ENSG00000169599
69622882
69664760
ENSP00000306965
NFU1
-1
NFU1_HUMAN
c.339T>C
p.I113I
syn
rs12474866
0.03205
G=2/A=8598;G=13/A=4393;G=15/A=12991
lod=468:626
-
-
-
het
12
20
2
69642390
A
G
ENST00000394305
ENSG00000169599
69622882
69664760
ENSP00000377842
NFU1
-1
NFU1_HUMAN
-
-
5'_UTR
rs12474866
0.03205
G=2/A=8598;G=13/A=4393;G=15/A=12991
lod=468:626
-
-
-
het
12
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