Prediction |
polymorphism |
Model: simple_aae, prob: 7.60884218502145e-09 (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) | chr3:122354792G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | PARP15 |
| Ensembl transcript ID | ENST00000493645 |
| Genbank transcript ID | N/A |
| UniProt peptide | Q460N3 |
| alteration type | single base exchange |
| alteration region | CDS |
| DNA changes | c.973G>A
cDNA.1068G>A
g.58344G>A |
| AA changes | G325R Score: 125 explain score(s) |
position(s) of altered AA
if AA alteration in CDS | 325 |
| frameshift | no |
| known variant | Reference ID: rs12489170
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | - | - | - |
| ExAC | 2533 | 16829 | 19362 |
|
| regulatory features | DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | -1.77 | 0 | | 5.058 | 0.992 | | (flanking) | 5.058 | 0.992 |
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 | | Acc increased | 58341 | wt: 0.41 / mu: 0.52 | wt: TACTTACTGGAGTCTTCACAAAGGGACGTGCAGGATTAGTC
mu: TACTTACTGGAGTCTTCACAAAGAGACGTGCAGGATTAGTC | acaa|AGGG | | Donor increased | 58337 | wt: 0.55 / mu: 0.67 | wt: GTCTTCACAAAGGGA
mu: GTCTTCACAAAGAGA | CTTC|acaa | | Donor marginally increased | 58342 | wt: 0.9988 / mu: 0.9990 (marginal change - not scored) | wt: CACAAAGGGACGTGC
mu: CACAAAGAGACGTGC | CAAA|ggga | | Donor increased | 58344 | wt: 0.79 / mu: 0.99 | wt: CAAAGGGACGTGCAG
mu: CAAAGAGACGTGCAG | AAGG|gacg | | Donor increased | 58347 | wt: 0.52 / mu: 0.73 | wt: AGGGACGTGCAGGAT
mu: AGAGACGTGCAGGAT | GGAC|gtgc | | Donor gained | 58339 | 0.85 | mu: CTTCACAAAGAGACG | TCAC|aaag |
|
| distance from splice site | 135 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | | species | match | gene | aa | alignment | | Human | | | 325 | V | V | R | V | L | T | G | V | F | T | K | G | R | A | G | L | V | T | P | P | P | K | N | P |
| mutated | not conserved | | 325 | V | V | R | V | L | T | G | V | F | T | K | R | R | A | G | L | V | T | P | P | P | K | N |
| Ptroglodytes | all identical | ENSPTRG00000015296 | 628 | V | V | R | V | L | T | G | V | F | T | K | G | R | A | G | L | V | T | P | P | P | K | N |
| Mmulatta | all identical | ENSMMUG00000020547 | 572 | V | V | R | V | L | T | G | V | F | T | K | G | H | A | G | L | V | T | P | P | P | K | N |
| Fcatus | no homologue | | | |
| Mmusculus | no homologue | | | |
| Ggallus | all identical | ENSGALG00000012072 | 1586 | L | A | R | V | L | V | G | Q | Y | S | Q | G | T | Q | G | A | I | T | P | A | A | K | N |
| Trubripes | all identical | ENSTRUG00000010891 | 349 | L | A | K | V | L | V | G | D | F | T | R | G | Q | A | G | L | P | A | P | P | E | K | - |
| Drerio | all identical | ENSDARG00000074139 | 1760 | L | A | K | V | L | V | G | D | F | T | R | G | N | S | G | L | L | V | P | P | A | K | S |
| Dmelanogaster | no homologue | | | |
| Celegans | no homologue | | | |
| Xtropicalis | all identical | ENSXETG00000023399 | 1760 | L | A | R | V | L | T | G | T | F | T | T | G | Q | T | N | M | I | T | P | P | P | K | N |
|
| protein features | | start (aa) | end (aa) | feature | details | | | 271 | 442 | DOMAIN | Macro 2. | lost | | 323 | 333 | HELIX | | lost | | 339 | 344 | STRAND | | might get lost (downstream of altered splice site) | | 348 | 357 | STRAND | | might get lost (downstream of altered splice site) | | 362 | 375 | HELIX | | might get lost (downstream of altered splice site) | | 380 | 383 | STRAND | | might get lost (downstream of altered splice site) | | 395 | 412 | HELIX | | might get lost (downstream of altered splice site) | | 420 | 427 | STRAND | | might get lost (downstream of altered splice site) | | 429 | 439 | HELIX | | might get lost (downstream of altered splice site) | | 460 | 656 | DOMAIN | PARP catalytic. | might get lost (downstream of altered splice site) | | 471 | 476 | STRAND | | might get lost (downstream of altered splice site) | | 482 | 495 | HELIX | | might get lost (downstream of altered splice site) | | 498 | 508 | STRAND | | might get lost (downstream of altered splice site) | | 509 | 525 | HELIX | | might get lost (downstream of altered splice site) | | 526 | 528 | STRAND | | might get lost (downstream of altered splice site) | | 532 | 539 | STRAND | | might get lost (downstream of altered splice site) | | 541 | 543 | HELIX | | might get lost (downstream of altered splice site) | | 544 | 550 | HELIX | | might get lost (downstream of altered splice site) | | 554 | 556 | TURN | | might get lost (downstream of altered splice site) | | 566 | 573 | STRAND | | might get lost (downstream of altered splice site) | | 574 | 578 | HELIX | | might get lost (downstream of altered splice site) | | 580 | 582 | TURN | | might get lost (downstream of altered splice site) | | 591 | 599 | STRAND | | might get lost (downstream of altered splice site) | | 602 | 605 | STRAND | | might get lost (downstream of altered splice site) | | 615 | 617 | STRAND | | might get lost (downstream of altered splice site) | | 620 | 624 | STRAND | | might get lost (downstream of altered splice site) | | 626 | 630 | STRAND | | might get lost (downstream of altered splice site) | | 632 | 634 | STRAND | | might get lost (downstream of altered splice site) | | 636 | 640 | STRAND | | might get lost (downstream of altered splice site) | | 645 | 655 | STRAND | | might get lost (downstream of altered splice site) |
|
| length of protein | normal |
| AA sequence altered | yes |
| position of stopcodon in wt / mu CDS | 1128 / 1128 |
| position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 |
| position of stopcodon in wt / mu cDNA | 1223 / 1223 |
| 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 | 96 / 96 |
| chromosome | 3 |
| strand | 1 |
| last intron/exon boundary | 934 |
| theoretical NMD boundary in CDS | 788 |
| length of CDS | 1128 |
| coding sequence (CDS) position | 973 |
cDNA position
(for ins/del: last normal base / first normal base) | 1068 |
gDNA position
(for ins/del: last normal base / first normal base) | 58344 |
chromosomal position
(for ins/del: last normal base / first normal base) | 122354792 |
| original gDNA sequence snippet | TTACTGGAGTCTTCACAAAGGGACGTGCAGGATTAGTCACC |
| altered gDNA sequence snippet | TTACTGGAGTCTTCACAAAGAGACGTGCAGGATTAGTCACC |
| original cDNA sequence snippet | TTACTGGAGTCTTCACAAAGGGACGTGCAGGATTAGTCACC |
| altered cDNA sequence snippet | TTACTGGAGTCTTCACAAAGAGACGTGCAGGATTAGTCACC |
| wildtype AA sequence | MLQRIGLIFL HNIVVVSNCF YFQAFLDEFT NWSRINPNKA RIPMAGDTQG VVGTVSKPCF
TAYEMKIGAI TFQVATGDIA TEQVDVIVNS TARTFNRKSG VSRAILEGAG QAVESECAVL
AAQPHRDFII TPGGCLKCKI IIHVPGGKDV RKTVTSVLEE CEQRKYTSVS LPAIGTGNLP
EHWTDMNHQL FCMVQLEPGQ SEYNTIKDKF TRTCSSYAIE KIERIQNAFL WQSYQVKKRQ
MDIKNDHKNN ERLLFHGTDA DSVPYVNQHG FNRSCAGKNA VSYGKGTYFA VDASYSAKDT
YSKPDSNGRK HMYVVRVLTG VFTKGRAGLV TPPPKNPHNP TDLFDSVTNN TRSPKLFVVF
FDNQAYPEYL ITFTA* |
| mutated AA sequence | MLQRIGLIFL HNIVVVSNCF YFQAFLDEFT NWSRINPNKA RIPMAGDTQG VVGTVSKPCF
TAYEMKIGAI TFQVATGDIA TEQVDVIVNS TARTFNRKSG VSRAILEGAG QAVESECAVL
AAQPHRDFII TPGGCLKCKI IIHVPGGKDV RKTVTSVLEE CEQRKYTSVS LPAIGTGNLP
EHWTDMNHQL FCMVQLEPGQ SEYNTIKDKF TRTCSSYAIE KIERIQNAFL WQSYQVKKRQ
MDIKNDHKNN ERLLFHGTDA DSVPYVNQHG FNRSCAGKNA VSYGKGTYFA VDASYSAKDT
YSKPDSNGRK HMYVVRVLTG VFTKRRAGLV TPPPKNPHNP TDLFDSVTNN TRSPKLFVVF
FDNQAYPEYL ITFTA* |
| speed | 0.46 s |
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