Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.24177944847819e-05 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:57925836C>TN/A show variant in all transcripts   IGV
HGNC symbol GCOM1
Ensembl transcript ID ENST00000380568
Genbank transcript ID NM_001018091
UniProt peptide P0CAP1
alteration type single base exchange
alteration region CDS
DNA changes c.830C>T
cDNA.832C>T
g.41731C>T
AA changes A277V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 277
frameshift no
known variant Reference ID: rs16977629
databasehomozygous (T/T)heterozygousallele carriers
1000G126677803
ExAC10811117712258
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.2721
4.810.998
(flanking)-4.2480.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased41733wt: 0.9805 / mu: 0.9843 (marginal change - not scored)wt: AAGCGATTGAAGAAG
mu: AAGTGATTGAAGAAG		 GCGA|ttga
Donor increased41724wt: 0.40 / mu: 0.93wt: GTTTTCTGAAAGCGA
mu: GTTTTCTGAAAGTGA		 TTTC|tgaa
Donor marginally increased41729wt: 0.6055 / mu: 0.6524 (marginal change - not scored)wt: CTGAAAGCGATTGAA
mu: CTGAAAGTGATTGAA		 GAAA|gcga
distance from splice site 26
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      277ALLEETNSFLKAIEEANKKMQAAE
mutated  not conserved    277ALLEETNSFLKVIEEANKKMQAA
Ptroglodytes  all identical  ENSPTRG00000007112  277ALLEETNSFLKAIEEANKKMQAA
Mmulatta  all identical  ENSMMUG00000012690  277ALLEETNSFLKAIEEANKKMQAA
Fcatus  all identical  ENSFCAG00000014906  252ALLEETNSFLKAIEEANKKMEAA
Mmusculus  all identical  ENSMUSG00000041361  277VLLEETNSFLKAIEEANKKMEAA
Ggallus  all identical  ENSGALG00000004283  254ILLEETNRLLKAIEESNKKMQIT
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000075017  304ALQAQLDDYMKRLEEAEKNAQIA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010875  305RQYLKAIEDASEKVRLA
protein features
start (aa)end (aa)featuredetails 
174418COILEDPotential.lost
424425MOTIFRequired for DYNLL1-binding.might get lost (downstream of altered splice site)
436436MUTAGENQ->G: No effect on DYNLL1-binding; when associated with G-448.might get lost (downstream of altered splice site)
448448MUTAGENR->G: No effect on DYNLL1-binding; when associated with G-436.might get lost (downstream of altered splice site)
450450MUTAGENY->G: No effect on DYNLL1-binding.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1338 / 1338
position (AA) of stopcodon in wt / mu AA sequence 446 / 446
position of stopcodon in wt / mu cDNA 1340 / 1340
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 3 / 3
chromosome 15
strand 1
last intron/exon boundary 1307
theoretical NMD boundary in CDS 1254
length of CDS 1338
coding sequence (CDS) position 830
cDNA position
(for ins/del: last normal base / first normal base)		 832
gDNA position
(for ins/del: last normal base / first normal base)		 41731
chromosomal position
(for ins/del: last normal base / first normal base)		 57925836
original gDNA sequence snippet AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA
altered gDNA sequence snippet AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA
original cDNA sequence snippet AACCAATAGTTTTCTGAAAGCGATTGAAGAAGCCAATAAAA
altered cDNA sequence snippet AACCAATAGTTTTCTGAAAGTGATTGAAGAAGCCAATAAAA
wildtype AA sequence MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKAIEE ANKKMQAAEI SLEEKDQRIG
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
VETREIGVGC DLLPRRCKQS SQRKN*
mutated AA sequence MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKVIEE ANKKMQAAEI SLEEKDQRIG
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE
VETREIGVGC DLLPRRCKQS SQRKN*
speed 1.02 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