Prediction |
polymorphism |
Model: simple_aae, prob: 0.999884932135667
(explain) |
Summary |
- amino acid sequence changed
- heterozygous 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) | chr3:75790880A>GN/A
show variant in all transcripts IGV
|
HGNC symbol | ZNF717 |
Ensembl transcript ID | ENST00000477374 |
Genbank transcript ID | N/A |
UniProt peptide | Q9BY31 |
alteration type | single base exchange |
alteration region | CDS |
DNA changes | c.65T>C cDNA.237T>C g.43855T>C |
AA changes | V22A Score: 64 explain score(s) |
position(s) of altered AA if AA alteration in CDS | 22 |
frameshift | no |
known variant | Reference ID: rs75138373
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | - | - | - |
ExAC | 0 | 59 | 59 |
|
regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K79me3, Histone, Histone 3 Lysine 79 Tri-Methylation H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation H4K20me3, Histone, Histone 4 Lysine 20 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 0.043 | 0.569 | | 0.815 | 0.556 | (flanking) | -0.339 | 0.527 | 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 | 43847 | wt: 0.4832 / mu: 0.5455 (marginal change - not scored) | wt: AACAGCCTGGTATCATTACAGGAGTTGGTGTCCTTTGAGGA mu: AACAGCCTGGTATCATTACAGGAGTTGGCGTCCTTTGAGGA | acag|GAGT | Donor gained | 43850 | 0.58 | mu: CAGGAGTTGGCGTCC | GGAG|ttgg |
|
distance from splice site | 8 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | species | match | gene | aa | alignment | Human | | | 22 | E | L | Q | E | K | N | K | S | L | E | L | V | S | F | E | E | V | A | V | H | F | T | W | E |
mutated | not conserved | | 22 | E | L | Q | E | K | N | K | S | L | E | L | A | S | F | E | E | V | A | V | H | F | T | W |
Ptroglodytes | no homologue | | | |
Mmulatta | all identical | ENSMMUG00000018453 | 2 | | | | | | | | | | | L | V | S | F | E | E | V | A | V | H | F | T | W |
Fcatus | no homologue | | | |
Mmusculus | all identical | ENSMUSG00000037001 | 59 | | | | | | | | | | | L | V | S | F | E | D | V | S | V | D | F | T | W |
Ggallus | no homologue | | | |
Trubripes | no homologue | | | |
Drerio | no homologue | | | |
Dmelanogaster | no homologue | | | |
Celegans | no homologue | | | |
Xtropicalis | no homologue | | | |
|
protein features | start (aa) | end (aa) | feature | details | | 15 | 86 | DOMAIN | KRAB. | lost | 202 | 224 | ZN_FING | C2H2-type 1; degenerate. | might get lost (downstream of altered splice site) | 259 | 270 | ZN_FING | C2H2-type 2; degenerate. | might get lost (downstream of altered splice site) | 276 | 298 | ZN_FING | C2H2-type 3; degenerate. | might get lost (downstream of altered splice site) | 304 | 326 | ZN_FING | C2H2-type 4. | might get lost (downstream of altered splice site) | 332 | 354 | ZN_FING | C2H2-type 5. | might get lost (downstream of altered splice site) | 360 | 382 | ZN_FING | C2H2-type 6. | might get lost (downstream of altered splice site) | 388 | 410 | ZN_FING | C2H2-type 7. | might get lost (downstream of altered splice site) | 391 | 391 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | 396 | 396 | MOD_RES | Phosphothreonine. | might get lost (downstream of altered splice site) | 398 | 398 | MOD_RES | Phosphoserine. | might get lost (downstream of altered splice site) | 402 | 402 | MOD_RES | Phosphotyrosine. | might get lost (downstream of altered splice site) | 416 | 438 | ZN_FING | C2H2-type 8. | might get lost (downstream of altered splice site) | 444 | 466 | ZN_FING | C2H2-type 9. | might get lost (downstream of altered splice site) | 472 | 494 | ZN_FING | C2H2-type 10. | might get lost (downstream of altered splice site) | 500 | 522 | ZN_FING | C2H2-type 11. | might get lost (downstream of altered splice site) | 528 | 550 | ZN_FING | C2H2-type 12. | might get lost (downstream of altered splice site) | 556 | 578 | ZN_FING | C2H2-type 13. | might get lost (downstream of altered splice site) | 584 | 606 | ZN_FING | C2H2-type 14. | might get lost (downstream of altered splice site) | 612 | 634 | ZN_FING | C2H2-type 15. | might get lost (downstream of altered splice site) | 642 | 659 | ZN_FING | C2H2-type 16; degenerate. | might get lost (downstream of altered splice site) | 664 | 664 | CONFLICT | R -> H (in Ref. 2; AAK28319). | might get lost (downstream of altered splice site) | 731 | 742 | ZN_FING | C2H2-type 17; degenerate. | might get lost (downstream of altered splice site) | 748 | 770 | ZN_FING | C2H2-type 18. | might get lost (downstream of altered splice site) | 776 | 798 | ZN_FING | C2H2-type 19. | might get lost (downstream of altered splice site) | 804 | 826 | ZN_FING | C2H2-type 20. | might get lost (downstream of altered splice site) | 832 | 854 | ZN_FING | C2H2-type 21. | might get lost (downstream of altered splice site) | 860 | 882 | ZN_FING | C2H2-type 22. | might get lost (downstream of altered splice site) |
|
length of protein | normal |
AA sequence altered | yes |
position of stopcodon in wt / mu CDS | 345 / 345 |
position (AA) of stopcodon in wt / mu AA sequence | 115 / 115 |
position of stopcodon in wt / mu cDNA | 517 / 517 |
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 | 173 / 173 |
chromosome | 3 |
strand | -1 |
last intron/exon boundary | 512 |
theoretical NMD boundary in CDS | 289 |
length of CDS | 345 |
coding sequence (CDS) position | 65 |
cDNA position (for ins/del: last normal base / first normal base) | 237 |
gDNA position (for ins/del: last normal base / first normal base) | 43855 |
chromosomal position (for ins/del: last normal base / first normal base) | 75790880 |
original gDNA sequence snippet | GGTATCATTACAGGAGTTGGTGTCCTTTGAGGAGGTAGCTG |
altered gDNA sequence snippet | GGTATCATTACAGGAGTTGGCGTCCTTTGAGGAGGTAGCTG |
original cDNA sequence snippet | GAATAAATCTCTGGAGTTGGTGTCCTTTGAGGAGGTAGCTG |
altered cDNA sequence snippet | GAATAAATCTCTGGAGTTGGCGTCCTTTGAGGAGGTAGCTG |
wildtype AA sequence | MFPVFSGCFQ ELQEKNKSLE LVSFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSGGSKKQVF SGICHRSLVE LQEV* |
mutated AA sequence | MFPVFSGCFQ ELQEKNKSLE LASFEEVAVH FTWEEWQDLD DAQRTLYRDV MLETYSSLVS LGHYITKPEM IFKLEQGAEP WIVEETPNLR LSGGSKKQVF SGICHRSLVE LQEV* |
speed | 1.07 s |
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