Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997045335 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:139026152T>GN/A show variant in all transcripts   IGV
HGNC symbol FMC1
Ensembl transcript ID ENST00000297534
Genbank transcript ID NM_197964
UniProt peptide Q96HJ9
alteration type single base exchange
alteration region CDS
DNA changes c.22T>G
cDNA.275T>G
g.1950T>G
AA changes S8A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 8
frameshift no
known variant Reference ID: rs10265
databasehomozygous (G/G)heterozygousallele carriers
1000G6388131451
ExAC64451987726322
regulatory features Ini1, Transcription Factor, Ini1 Transcription Factor Binding
p300, Transcription Factor, p300 Transcription Factor Binding
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
GTF2B, Transcription Factor, GTF2B Transcription Factor Binding
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H2AZ, Histone, Histone 2A variant Z
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
Cmyc, Transcription Factor, Cmyc TF binding
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
Jund, Transcription Factor, Jund TF binding
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
CTCF, Transcription Factor, CCCTC-binding factor
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
PolIII Transcription Associated, Regulatory Feature, PolIII transcribed RNA gene associated regulatory feature
Znf263, Transcription Factor, Znf263 TF binding
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
TFIIIC-110, Transcription Factor, TFIIIC-110 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1851
0.3640.999
(flanking)1.0151
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 117
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      8 MAALGSPSHTFRGLLRELRY
mutated  all conserved    8 MAALGSPAHTFRGLLRELRYLS
Ptroglodytes  all conserved  ENSPTRG00000019754  8 MAALGSPAHTFRGLLRELRYLS
Mmulatta  all conserved  ENSMMUG00000006769  27 MAALGSPARTLRGLLRELRYLS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000019689  8 MAALGSPARTLRGLLRELRYLN
Ggallus  not conserved  ENSGALG00000011856  8 MAALGSPLRTLRGLLRELRHIS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074266  10 MAAMCSALRVCRGILKEIR---
Dmelanogaster  no alignment  FBgn0083953  n/a
Celegans  no alignment  C29E4.12  n/a
Xtropicalis  not conserved  ENSXETG00000032301  8 MAALGSPLRTFHGLLRELRYMN
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 342 / 342
position (AA) of stopcodon in wt / mu AA sequence 114 / 114
position of stopcodon in wt / mu cDNA 595 / 595
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 254 / 254
chromosome 7
strand 1
last intron/exon boundary 392
theoretical NMD boundary in CDS 88
length of CDS 342
coding sequence (CDS) position 22
cDNA position
(for ins/del: last normal base / first normal base)		 275
gDNA position
(for ins/del: last normal base / first normal base)		 1950
chromosomal position
(for ins/del: last normal base / first normal base)		 139026152
original gDNA sequence snippet TGGCGGCCTTAGGGTCCCCGTCGCACACTTTTCGAGGACTT
altered gDNA sequence snippet TGGCGGCCTTAGGGTCCCCGGCGCACACTTTTCGAGGACTT
original cDNA sequence snippet TGGCGGCCTTAGGGTCCCCGTCGCACACTTTTCGAGGACTT
altered cDNA sequence snippet TGGCGGCCTTAGGGTCCCCGGCGCACACTTTTCGAGGACTT
wildtype AA sequence MAALGSPSHT FRGLLRELRY LSAATGRPYR DTAAYRYLVK AFRAHRVTSE KLCRAQHELH
FQAATYLCLL RSIRKHVALH QEFHGKGERS VEESAGLVGL KLPHQPGGKG WEP*
mutated AA sequence MAALGSPAHT FRGLLRELRY LSAATGRPYR DTAAYRYLVK AFRAHRVTSE KLCRAQHELH
FQAATYLCLL RSIRKHVALH QEFHGKGERS VEESAGLVGL KLPHQPGGKG WEP*
speed 0.98 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project