Prediction |
polymorphism |
Model: simple_aae, prob: 0.0100443899086364 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr8:104337367A>CN/A
show variant in all transcripts IGV
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HGNC symbol | FZD6 |
Ensembl transcript ID | ENST00000540287 |
Genbank transcript ID | N/A |
UniProt peptide | O60353 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.118A>C cDNA.535A>C g.26707A>C |
AA changes | M40L Score: 15 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 40 |
frameshift | no |
known variant | Reference ID: rs3808553
database | homozygous (C/C) | heterozygous | allele carriers |
1000G | 558 | 1128 | 1686 |
ExAC | 13605 | 5557 | 19162 |
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -2.606 | 0.006 | | 1.914 | 0.958 | (flanking) | 5.306 | 1 | 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 marginally increased | 26707 | wt: 0.5889 / mu: 0.6006 (marginal change - not scored) | wt: TGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGAC mu: TGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGAC | gcta|TGAA | Acc marginally increased | 26705 | wt: 0.9711 / mu: 0.9800 (marginal change - not scored) | wt: CCTGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAG mu: CCTGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAG | ttgc|TATG | Acc marginally increased | 26703 | wt: 0.7301 / mu: 0.7709 (marginal change - not scored) | wt: TTCCTGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGG mu: TTCCTGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGG | tctt|GCTA | Acc marginally increased | 26708 | wt: 0.8049 / mu: 0.8540 (marginal change - not scored) | wt: GACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGACA mu: GACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACA | ctat|GAAC | Acc marginally increased | 26704 | wt: 0.7289 / mu: 0.7724 (marginal change - not scored) | wt: TCCTGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGA mu: TCCTGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGA | cttg|CTAT | Donor marginally increased | 26710 | wt: 0.9890 / mu: 0.9899 (marginal change - not scored) | wt: CTATGAACAAAGTTG mu: CTCTGAACAAAGTTG | ATGA|acaa | Acc gained | 26709 | 0.58 | mu: ACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACAA | tctg|AACA | Acc gained | 26714 | 0.32 | mu: TATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACAACATTA | acaa|AGTT | Acc gained | 26712 | 0.41 | mu: GTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGACAACAT | gaac|AAAG |
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distance from splice site | 86 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 40 | T | P | G | F | L | T | V | M | L | L | A | M | N | K | V | E | G | D | N | I | S | G | V | C |
mutated | all conserved | | 40 | T | P | G | F | L | T | V | M | L | L | A | L | N | K | V | E | G | D | N | I | S | G | V |
Ptroglodytes | all identical | ENSPTRG00000020490 | 345 | T | P | G | F | L | T | V | M | L | L | A | M | N | K | V | E | G | D | N | I | S | G | V |
Mmulatta | all identical | ENSMMUG00000019399 | 345 | T | P | G | F | L | T | V | M | L | L | A | M | N | K | V | E | G | D | N | I | S | G | V |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000022297 | 345 | A | P | G | F | L | T | V | M | L | L | A | M | N | K | V | E | G | D | N | I | S | G | V |
Ggallus | all identical | ENSGALG00000016069 | 345 | I | P | G | F | L | T | I | M | L | L | A | M | N | K | V | E | G | D | N | I | S | G | V |
Trubripes | no homologue | | | |
Drerio | all conserved | ENSDARG00000042731 | 283 | V | P | A | V | L | T | L | L | L | L | A | L | G | K | V | E | G | D | G | I | S | G | V |
Dmelanogaster | all conserved | FBgn0001085 | 400 | V | P | A | L | Q | T | I | S | V | L | A | L | A | K | V | E | G | D | I | L | S | G | V |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
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protein features | start (aa) | end (aa) | feature | details | | 19 | 132 | DOMAIN | FZ. | lost | 19 | 201 | TOPO_DOM | Extracellular (Potential). | lost | 69 | 69 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 78 | 78 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 85 | 85 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 95 | 95 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 99 | 99 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 106 | 106 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 123 | 123 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 129 | 129 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 202 | 222 | TRANSMEM | Helical; Name=1; (Potential). | might get lost (downstream of altered splice site) | 223 | 233 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 234 | 254 | TRANSMEM | Helical; Name=2; (Potential). | might get lost (downstream of altered splice site) | 255 | 284 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 285 | 305 | TRANSMEM | Helical; Name=3; (Potential). | might get lost (downstream of altered splice site) | 306 | 324 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 325 | 345 | TRANSMEM | Helical; Name=4; (Potential). | might get lost (downstream of altered splice site) | 346 | 370 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 352 | 352 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 371 | 391 | TRANSMEM | Helical; Name=5; (Potential). | might get lost (downstream of altered splice site) | 392 | 416 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 417 | 437 | TRANSMEM | Helical; Name=6; (Potential). | might get lost (downstream of altered splice site) | 438 | 473 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 474 | 494 | TRANSMEM | Helical; Name=7; (Potential). | might get lost (downstream of altered splice site) | 495 | 706 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 498 | 503 | MOTIF | Lys-Thr-X-X-X-Trp motif, mediates interaction with the PDZ domain of Dvl family members (By similarity). | might get lost (downstream of altered splice site) | 606 | 606 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | 607 | 607 | MOD_RES | Phosphothreonine. | might get lost (downstream of altered splice site) |
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length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 1206 / 1206 |
position (AA) of stopcodon in wt / mu AA sequence | 402 / 402 |
position of stopcodon in wt / mu cDNA | 1623 / 1623 |
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 | 418 / 418 |
chromosome | 8 |
strand | 1 |
last intron/exon boundary | 1455 |
theoretical NMD boundary in CDS | 987 |
length of CDS | 1206 |
coding sequence (CDS) position | 118 |
cDNA position (for ins/del: last normal base / first normal base) | 535 |
gDNA position (for ins/del: last normal base / first normal base) | 26707 |
chromosomal position (for ins/del: last normal base / first normal base) | 104337367 |
original gDNA sequence snippet | TGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGAC |
altered gDNA sequence snippet | TGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGAC |
original cDNA sequence snippet | TGACTGTTATGCTTCTTGCTATGAACAAAGTTGAAGGAGAC |
altered cDNA sequence snippet | TGACTGTTATGCTTCTTGCTCTGAACAAAGTTGAAGGAGAC |
wildtype AA sequence | MTRVLPRWKW SCEAIEQKAV WFHAVAWGTP GFLTVMLLAM NKVEGDNISG VCFVGLYDLD ASRYFVLLPL CLCVFVGLSL LLAGIISLNH VRQVIQHDGR NQEKLKKFMI RIGVFSGLYL VPLVTLLGCY VYEQVNRITW EITWVSDHCR QYHIPCPYQA KAKARPELAL FMIKYLMTLI VGISAVFWVG SKKTCTEWAG FFKRNRKRDP ISESRRVLQE SCEFFLKHNS KVKHKKKHYK PSSHKLKVIS KSMGTSTGAT ANHGTSAVAI TSHDYLGQET LTEIQTSPET SMREVKADGA STPRLREQDC GEPASPAASI SRLSGEQVDG KGQAGSVSES ARSEGRISPK SDITDTGLAQ SNNLQVPSSS EPSSLKGSTS LLVHPVSGVR KEQGGGCHSD T* |
mutated AA sequence | MTRVLPRWKW SCEAIEQKAV WFHAVAWGTP GFLTVMLLAL NKVEGDNISG VCFVGLYDLD ASRYFVLLPL CLCVFVGLSL LLAGIISLNH VRQVIQHDGR NQEKLKKFMI RIGVFSGLYL VPLVTLLGCY VYEQVNRITW EITWVSDHCR QYHIPCPYQA KAKARPELAL FMIKYLMTLI VGISAVFWVG SKKTCTEWAG FFKRNRKRDP ISESRRVLQE SCEFFLKHNS KVKHKKKHYK PSSHKLKVIS KSMGTSTGAT ANHGTSAVAI TSHDYLGQET LTEIQTSPET SMREVKADGA STPRLREQDC GEPASPAASI SRLSGEQVDG KGQAGSVSES ARSEGRISPK SDITDTGLAQ SNNLQVPSSS EPSSLKGSTS LLVHPVSGVR KEQGGGCHSD T* |
speed | 0.58 s |
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