Prediction |
polymorphism |
Model: simple_aae, prob: 0.948249207169557 (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) | chr17:260299G>AN/A
show variant in all transcripts IGV
|
HGNC symbol | C17orf97 |
Ensembl transcript ID | ENST00000571106 |
Genbank transcript ID | N/A |
UniProt peptide | Q6ZQX7 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.166G>A cDNA.172G>A g.182G>A |
AA changes | E56K Score: 56 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 56 |
frameshift | no |
known variant | Reference ID: rs4581766
database | homozygous (A/A) | heterozygous | allele carriers |
1000G | 124 | 744 | 868 |
ExAC | 182 | 1590 | 1772 |
|
regulatory features | H3K9ac, Histone, Histone 3 Lysine 9 Acetylation Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation Max, Transcription Factor, Max TF binding Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding H3K27ac, Histone, Histone 3 Lysine 27 Acetylation PolII, Polymerase, RNA Polymerase II H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation TAF1, Transcription Factor, TAF1 Transcription Factor Binding H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation H4K91ac, Histone, Histone 4 Lysine 91 Acetylation DNase1, Open Chromatin, DNase1 Hypersensitive Site |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -1.583 | 0.667 | | 2.277 | 0.872 | (flanking) | 1.935 | 0.884 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | effect | gDNA position | score | wt detection sequence | exon-intron border | Donor increased | 178 | wt: 0.90 / mu: 1.00 | wt: GGCGAGGAGGAGGAG mu: GGCGAGGAGAAGGAG | CGAG|gagg | Donor increased | 187 | wt: 0.25 / mu: 0.34 | wt: GAGGAGCGGGAGGGC mu: AAGGAGCGGGAGGGC | GGAG|cggg | Donor marginally increased | 175 | wt: 0.9529 / mu: 0.9728 (marginal change - not scored) | wt: GACGGCGAGGAGGAG mu: GACGGCGAGGAGAAG | CGGC|gagg | Donor marginally increased | 173 | wt: 0.8416 / mu: 0.8787 (marginal change - not scored) | wt: ACGACGGCGAGGAGG mu: ACGACGGCGAGGAGA | GACG|gcga | Donor gained | 183 | 0.46 | mu: GGAGAAGGAGCGGGA | AGAA|ggag | Donor gained | 177 | 0.31 | mu: CGGCGAGGAGAAGGA | GCGA|ggag |
|
distance from splice site | 139 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 56 | T | M | G | Y | K | D | N | D | G | E | E | E | E | R | E | G | G | A | A | G | P | R | G | S |
mutated | all conserved | | 56 | T | M | G | Y | K | D | N | D | G | E | E | K | E | R | E | G | | | | | | | |
Ptroglodytes | no alignment | ENSPTRG00000031019 | n/a | |
Mmulatta | all identical | ENSMMUG00000001533 | 56 | A | S | G | Y | E | D | N | D | G | E | E | E | E | R | E | G | | | | | | | |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000053783 | 20 | A | A | E | Y | G | E | E | G | E | E | E | E | EEEA | R | E | G | G | A | E | G | S | P | G |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no alignment | ENSDARG00000095185 | n/a | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
|
protein features | start (aa) | end (aa) | feature | details | | 54 | 59 | COMPBIAS | Poly-Glu. | lost | 82 | 95 | COMPBIAS | Poly-Lys. | might get lost (downstream of altered splice site) | 105 | 105 | CONFLICT | Q -> L (in Ref. 3; AAI41807). | might get lost (downstream of altered splice site) | 114 | 114 | CONFLICT | L -> P (in Ref. 3; AAH57385). | might get lost (downstream of altered splice site) | 201 | 210 | REPEAT | 1. | might get lost (downstream of altered splice site) | 201 | 400 | REGION | 20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. | might get lost (downstream of altered splice site) | 211 | 220 | REPEAT | 2. | might get lost (downstream of altered splice site) | 221 | 230 | REPEAT | 3. | might get lost (downstream of altered splice site) | 231 | 240 | REPEAT | 4. | might get lost (downstream of altered splice site) | 240 | 240 | CONFLICT | E -> D (in Ref. 3; AAH57385). | might get lost (downstream of altered splice site) | 241 | 250 | REPEAT | 5. | might get lost (downstream of altered splice site) | 251 | 260 | REPEAT | 6. | might get lost (downstream of altered splice site) | 261 | 270 | REPEAT | 7. | might get lost (downstream of altered splice site) | 271 | 280 | REPEAT | 8. | might get lost (downstream of altered splice site) | 281 | 290 | REPEAT | 9. | might get lost (downstream of altered splice site) | 291 | 300 | REPEAT | 10. | might get lost (downstream of altered splice site) | 301 | 310 | REPEAT | 11. | might get lost (downstream of altered splice site) | 311 | 320 | REPEAT | 12. | might get lost (downstream of altered splice site) | 321 | 330 | REPEAT | 13. | might get lost (downstream of altered splice site) | 331 | 340 | REPEAT | 14. | might get lost (downstream of altered splice site) | 341 | 350 | REPEAT | 15. | might get lost (downstream of altered splice site) | 351 | 360 | REPEAT | 16. | might get lost (downstream of altered splice site) | 361 | 370 | REPEAT | 17. | might get lost (downstream of altered splice site) | 371 | 380 | REPEAT | 18. | might get lost (downstream of altered splice site) | 381 | 390 | REPEAT | 19. | might get lost (downstream of altered splice site) | 391 | 400 | REPEAT | 20. | might get lost (downstream of altered splice site) |
|
length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 462 / 462 |
position (AA) of stopcodon in wt / mu AA sequence | 154 / 154 |
position of stopcodon in wt / mu cDNA | 468 / 468 |
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 | 7 / 7 |
chromosome | 17 |
strand | 1 |
last intron/exon boundary | 311 |
theoretical NMD boundary in CDS | 254 |
length of CDS | 462 |
coding sequence (CDS) position | 166 |
cDNA position (for ins/del: last normal base / first normal base) | 172 |
gDNA position (for ins/del: last normal base / first normal base) | 182 |
chromosomal position (for ins/del: last normal base / first normal base) | 260299 |
original gDNA sequence snippet | AGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCC |
altered gDNA sequence snippet | AGGACAACGACGGCGAGGAGAAGGAGCGGGAGGGCGGCGCC |
original cDNA sequence snippet | AGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCC |
altered cDNA sequence snippet | AGGACAACGACGGCGAGGAGAAGGAGCGGGAGGGCGGCGCC |
wildtype AA sequence | METRGPGLAV RAESRRLVGI GPRAPPGRVG LQPSGRLDRR GGAGTMGYKD NDGEEEEREG GAAGPRGSRL PPITGGASEL AKRKVKKKKR KKKTKGSGKG DGILLWGKPA AVLCGLPEER CPPERNDVSA QQHGGPESCY QPHECAWKQV EPS* |
mutated AA sequence | METRGPGLAV RAESRRLVGI GPRAPPGRVG LQPSGRLDRR GGAGTMGYKD NDGEEKEREG GAAGPRGSRL PPITGGASEL AKRKVKKKKR KKKTKGSGKG DGILLWGKPA AVLCGLPEER CPPERNDVSA QQHGGPESCY QPHECAWKQV EPS* |
speed | 0.49 s |
|
|