Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999793838194 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr5:31515657G>AN/A show variant in all transcripts   IGV
HGNC symbol DROSHA
Ensembl transcript ID ENST00000442743
Genbank transcript ID NM_001100412
UniProt peptide Q9NRR4
alteration type single base exchange
alteration region intron
DNA changes g.16647C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs55656741
databasehomozygous (A/A)heterozygousallele carriers
1000G2958221117
ExAC221351577370
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.620.005
0.5540.008
(flanking)0.1210.01
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased16658wt: 0.51 / mu: 0.64wt: ACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACCA
mu: ACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACCA		 cctg|AACC
Acc increased16656wt: 0.39 / mu: 0.57wt: TTACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACAC
mu: TTACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACAC		 ttcc|TGAA
Acc marginally increased16648wt: 0.4971 / mu: 0.5043 (marginal change - not scored)wt: TTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTGG
mu: TTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTGG		 atcg|GTTG
Acc increased16657wt: 0.30 / mu: 0.50wt: TACGGTTTATCGGTTGTTCCTGAACCTGCTGGATGCACACC
mu: TACGGTTTATTGGTTGTTCCTGAACCTGCTGGATGCACACC		 tcct|GAAC
distance from splice site 331
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
219316COMPBIASArg-rich.might get lost (downstream of altered splice site)
4901374REGIONNecessary for interaction with DGCR8 and pri-miRNA processing activity.might get lost (downstream of altered splice site)
612612CONFLICTL -> P (in Ref. 3; CAB45133).might get lost (downstream of altered splice site)
8761056DOMAINRNase III 1.might get lost (downstream of altered splice site)
993993MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
10201020CONFLICTR -> P (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
10451045MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
11071233DOMAINRNase III 2.might get lost (downstream of altered splice site)
11471147METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
11711171MUTAGENE->A,Q: Does not reduce pri-miRNA processing activity.might get lost (downstream of altered splice site)
12151215SITEImportant for activity (By similarity).might get lost (downstream of altered splice site)
12191219METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222METALMagnesium or manganese (By similarity).might get lost (downstream of altered splice site)
12221222MUTAGENE->Q: Reduces pri-miRNA processing activity.might get lost (downstream of altered splice site)
12301230CONFLICTI -> T (in Ref. 1; AAF80558).might get lost (downstream of altered splice site)
12601334DOMAINDRBM.might get lost (downstream of altered splice site)
12631271HELIXmight get lost (downstream of altered splice site)
12751277STRANDmight get lost (downstream of altered splice site)
12841286STRANDmight get lost (downstream of altered splice site)
12921294STRANDmight get lost (downstream of altered splice site)
12981304STRANDmight get lost (downstream of altered splice site)
13121316STRANDmight get lost (downstream of altered splice site)
13171329HELIXmight get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 48 / 48
chromosome 5
strand -1
last intron/exon boundary 3931
theoretical NMD boundary in CDS 3833
length of CDS 4014
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 16647
chromosomal position
(for ins/del: last normal base / first normal base)		 31515657
original gDNA sequence snippet TTTTAGGAGTTACGGTTTATCGGTTGTTCCTGAACCTGCTG
altered gDNA sequence snippet TTTTAGGAGTTACGGTTTATTGGTTGTTCCTGAACCTGCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MMQGNTCHRM SFHPGRGCPR GRGGHGARPS APSFRPQNLR LLHPQQPPVQ YQYEPPSAPS
TTFSNSPAPN FLPPRPDFVP FPPPMPPSAQ GPLPPCPIRP PFPNHQMRHP FPVPPCFPPM
PPPMPCPNNP PVPGAPPGQG TFPFMMPPPS MPHPPPPPVM PQQVNYQYPP GYSHHNFPPP
SFNSFQNNPS SFLPSANNSS SPHFRHLPPY PLPKAPSERR SPERLKHYDD HRHRDHSHGR
GERHRSLDRR ERGRSPDRRR QDSRYRSDYD RGRTPSRHRS YERSRERERE RHRHRDNRRS
PSLERSYKKE YKRSGSRSPS REKKRARWEE EKDRWSDNQS SGKDKNYTSI KEKEPEETMP
DKNEEEEEEL LKPVWIRCTH SENYYSSDPM DQVGDSTVVG TSRLRDLYDK FEEELGSRQE
KAKAARPPWE PPKTKLDEDL ESSSESECES DEDSTCSSSS DSEVFDVIAE IKRKKAHPDR
LHDELWYNDP GQMNDGPLCK CSAKARRTGI RHSIYPGEEA IKPCRPMTNN AGRLFHYRIT
VSPPTNFLTD RPTVIEYDDH EYIFEGFSMF AHAPLTNIPL CKVIRFNIDY TIHFIEEMMP
ENFCVKGLEL FSLFLFRDIL ELYDWNLKGP LFEDSPPCCP RFHFMPRFVR FLPDGGKEVL
SMHQILLYLL RCSKALVPEE EIANMLQWEE LEWQKYAEEC KGMIVTNPGT KPSSVRIDQL
DREQFNPDVI TFPIIVHFGI RPAQLSYAGD PQYQKLWKSY VKLRHLLANS PKVKQTDKQK
LAQREEALQK IRQKNTMRRE VTVELSSQGF WKTGIRSDVC QHAMMLPVLT HHIRYHQCLM
HLDKLIGYTF QDRCLLQLAM THPSHHLNFG MNPDHARNSL SNCGIRQPKY GDRKVHHMHM
RKKGINTLIN IMSRLGQDDP TPSRINHNER LEFLGDAVVE FLTSVHLYYL FPSLEEGGLA
TYRTAIVQNQ HLAMLAKKLE LDRFMLYAHG PDLCRESDLR HAMANCFEAL IGAVYLEGSL
EEAKQLFGRL LFNDPDLREV WLNYPLHPLQ LQEPNTDRQL IETSPVLQKL TEFEEAIGVI
FTHVRLLARA FTLRTVGFNH LTLGHNQRME FLGDSIMQLV ATEYLFIHFP DHHEGHLTLL
RSSLVNNRTQ AKVAEELGMQ EYAITNDKTK RPVALRTKTL ADLLESFIAA LYIDKDLEYV
HTFMNVCFFP RLKEFILNQD WNDPKSQLQQ CCLTLRTEGK EPDIPLYKTL QTVGPSHART
YTVAVYFKGE RIGCGKGPSI QQAEMGAAMD ALEKYNFPQM AHQKRFIERK YRQELKEMRW
EREHQEREPD ETEDIKK*
mutated AA sequence N/A
speed 0.57 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