Prediction |
polymorphism |
Model: without_aae, prob: 2.47075679079387e-08 (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
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hyperlink |
analysed issue |
analysis result |
name of alteration | no title |
alteration (phys. location) | chr4:39064162A>CN/A
show variant in all transcripts IGV
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HGNC symbol | KLHL5 |
Ensembl transcript ID | ENST00000508137 |
Genbank transcript ID | NM_001171654 |
UniProt peptide | Q96PQ7 |
alteration type | single base exchange |
alteration region | intron |
DNA changes | g.17504A>C |
AA changes | N/A |
position(s) of altered AA if AA alteration in CDS | N/A |
frameshift | N/A |
known variant | Reference ID: rs2711941
database | homozygous (C/C) | heterozygous | allele carriers |
1000G | 1393 | 902 | 2295 |
ExAC | - | - | - |
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regulatory features | H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | 1.17 | 0.96 | | 0.584 | 0.986 | (flanking) | 1.091 | 0.996 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | splice site change before start ATG (at aa -12) | effect | gDNA position | score | detection sequence | exon-intron border | Acc marginally increased | 17513 | wt: 0.8705 / mu: 0.9553 (marginal change - not scored) | wt: TTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATATACT mu: TTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATACT | gttg|TGTA | Acc increased | 17511 | wt: 0.46 / mu: 0.92 | wt: TTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATATA mu: TTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATA | ttgt|TGTG | Acc marginally increased | 17500 | wt: 0.6897 / mu: 0.7142 (marginal change - not scored) | wt: AATGTGATTTATTTTCCTTTACATATTTTTGTTGTGTACAG mu: AATGTGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAG | ttta|CATA | Acc marginally increased | 17502 | wt: 0.8826 / mu: 0.8993 (marginal change - not scored) | wt: TGTGATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCA mu: TGTGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCA | taca|TATT | Acc increased | 17496 | wt: 0.43 / mu: 0.59 | wt: TATGAATGTGATTTATTTTCCTTTACATATTTTTGTTGTGT mu: TATGAATGTGATTTATTTTCCTTTACATCTTTTTGTTGTGT | ttcc|TTTA | Acc marginally increased | 17509 | wt: 0.9724 / mu: 0.9952 (marginal change - not scored) | wt: TATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATA mu: TATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATA | tttt|GTTG | Acc marginally increased | 17505 | wt: 0.9645 / mu: 0.9690 (marginal change - not scored) | wt: GATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGG mu: GATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGG | atat|TTTT | Acc increased | 17506 | wt: 0.45 / mu: 0.96 | wt: ATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGC mu: ATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGC | tatt|TTTG | Acc increased | 17510 | wt: 0.80 / mu: 0.92 | wt: ATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCATAT mu: ATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATAT | tttg|TTGT | Acc increased | 17514 | wt: 0.81 / mu: 0.90 | wt: TCCTTTACATATTTTTGTTGTGTACAGCAGGGCATATACTT mu: TCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATACTT | ttgt|GTAC | Acc marginally increased | 17499 | wt: 0.7974 / mu: 0.8121 (marginal change - not scored) | wt: GAATGTGATTTATTTTCCTTTACATATTTTTGTTGTGTACA mu: GAATGTGATTTATTTTCCTTTACATCTTTTTGTTGTGTACA | cttt|ACAT | Acc increased | 17508 | wt: 0.40 / mu: 0.81 | wt: TTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGGGCAT mu: TTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCAT | tttt|TGTT | Donor marginally increased | 17509 | wt: 0.8305 / mu: 0.8890 (marginal change - not scored) | wt: ATTTTTGTTGTGTAC mu: CTTTTTGTTGTGTAC | TTTT|gttg | Acc gained | 17512 | 0.40 | mu: TTTCCTTTACATCTTTTTGTTGTGTACAGCAGGGCATATAC | tgtt|GTGT |
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distance from splice site | 13423 |
Kozak consensus sequence altered? | N/A |
conservation protein level for non-synonymous changes | N/A |
protein features | start (aa) | end (aa) | feature | details | | 220 | 287 | DOMAIN | BTB. | might get lost (downstream of altered splice site) | 323 | 323 | CONFLICT | L -> P (in Ref. 2; BAA91845). | might get lost (downstream of altered splice site) | 435 | 435 | CONFLICT | Q -> R (in Ref. 1; AAL08584). | might get lost (downstream of altered splice site) | 468 | 514 | REPEAT | Kelch 1. | might get lost (downstream of altered splice site) | 515 | 561 | REPEAT | Kelch 2. | might get lost (downstream of altered splice site) | 563 | 608 | REPEAT | Kelch 3. | might get lost (downstream of altered splice site) | 594 | 594 | CONFLICT | M -> K (in Ref. 2; BAA91845). | might get lost (downstream of altered splice site) | 609 | 655 | REPEAT | Kelch 4. | might get lost (downstream of altered splice site) | 657 | 708 | REPEAT | Kelch 5. | might get lost (downstream of altered splice site) | 695 | 695 | CONFLICT | S -> G (in Ref. 2; BAA92121). | might get lost (downstream of altered splice site) | 709 | 754 | REPEAT | Kelch 6. | might get lost (downstream of altered splice site) |
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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 | 78 / 78 |
chromosome | 4 |
strand | 1 |
last intron/exon boundary | 1728 |
theoretical NMD boundary in CDS | 1600 |
length of CDS | 1707 |
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) | 17504 |
chromosomal position (for ins/del: last normal base / first normal base) | 39064162 |
original gDNA sequence snippet | TGATTTATTTTCCTTTACATATTTTTGTTGTGTACAGCAGG |
altered gDNA sequence snippet | TGATTTATTTTCCTTTACATCTTTTTGTTGTGTACAGCAGG |
original cDNA sequence snippet | N/A |
altered cDNA sequence snippet | N/A |
wildtype AA sequence | MEPCTSDEFF QALNHAEQTF KKMENYLRHK QLCDVILVAG DRRIPAHRLV LSSVSDYFAA MFTNDVREAR QEEIKMEGVE PNSLWSLIQY AYTGRLELKE DNIECLLSTA CLLQLSQVVE ACCKFLMKQL HPSNCLGIRS FADAQGCTDL HKVAHNYTME HFMEVIRNQE FVLLPASEIA KLLASDDMNI PNEETILNAL LTWVRHDLEQ RRKDLSKLLA YIRLPLLAPQ FLADMENNVL FRDDIECQKL IMEAMKYHLL PERRPMLQSP RTKPRKSTVG TLFAVGGMDS TKGATSIEKY DLRTNMWTPV ANMNGRRLQF GVAVLDDKLY VVGGRDGLKT LNTVECYNPK TKTWSVMPPM STHRHGLGVA VLEGPMYAVG GHDGWSYLNT VERWDPQARQ WNFVATMSTP RSTVGVAVLS GKLYAVGGRD GSSCLKSVEC FDPHTNKWTL CAQMSKRRGG VGVTTWNGLL YAIGGHDAPA SNLTSRLSDC VERYDPKTDM WTAVASMSIS RDAVGVCLLG DKLYAVGGYD GQAYLNTVEA YDPQTNEWTQ VAPLCLGRAG ACVVTVKL* |
mutated AA sequence | N/A |
speed | 0.86 s |
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