Prediction |
polymorphism |
Model: without_aae, prob: 0.999985455419813 (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) | chr5:180338368A>GN/A
show variant in all transcripts IGV
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HGNC symbol | BTNL8 |
Ensembl transcript ID | ENST00000505126 |
Genbank transcript ID | N/A |
UniProt peptide | Q6UX41 |
alteration type | single base exchange |
alteration region | 5'UTR |
DNA changes | cDNA.164A>G g.12292A>G |
AA changes | N/A |
position(s) of altered AA if AA alteration in CDS | N/A |
frameshift | N/A |
known variant | Reference ID: rs2276995
database | homozygous (G/G) | heterozygous | allele carriers |
1000G | 523 | 1120 | 1643 |
ExAC | 9336 | 14095 | 23431 |
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regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation |
phyloP / phastCons | | PhyloP | PhastCons |
(flanking) | -1.799 | 0 | | -1.401 | 0 | (flanking) | -3.651 | 0 | explain score(s) and/or inspect your position(s) in in UCSC Genome Browser |
splice sites | splice site change before start ATG (at aa -67) | splice site change before start ATG (at aa -65) | effect | gDNA position | score | detection sequence | exon-intron border | Acc increased | 12283 | wt: 0.59 / mu: 0.70 | wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT | ctca|TTTC | Acc increased | 12291 | wt: 0.35 / mu: 0.72 | wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA | catc|ACGG | Acc marginally increased | 12290 | wt: 0.8637 / mu: 0.9037 (marginal change - not scored) | wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG | ccat|CACG | Acc marginally increased | 12293 | wt: 0.8593 / mu: 0.8751 (marginal change - not scored) | wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA | tcac|GGGA | Acc marginally increased | 12288 | wt: 0.9542 / mu: 0.9706 (marginal change - not scored) | wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG | ttcc|ATCA | Acc marginally increased | 12300 | wt: 0.7056 / mu: 0.7155 (marginal change - not scored) | wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT | atat|GTTG | Acc marginally increased | 12282 | wt: 0.2015 / mu: 0.2457 (marginal change - not scored) | wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT | tctc|ATTT | Acc increased | 12284 | wt: 0.29 / mu: 0.38 | wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG | tcat|TTCC |
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distance from splice site | 30 |
Kozak consensus sequence altered? | no |
conservation protein level for non-synonymous changes | N/A |
protein features | start (aa) | end (aa) | feature | details | | 1 | 17 | SIGNAL | | might get lost (downstream of altered splice site) | 18 | 238 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | 19 | 132 | DOMAIN | Ig-like V-type 1. | might get lost (downstream of altered splice site) | 40 | 40 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 103 | 103 | CARBOHYD | N-linked (GlcNAc...) (Potential). | might get lost (downstream of altered splice site) | 114 | 114 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 133 | 222 | DOMAIN | Ig-like V-type 2. | might get lost (downstream of altered splice site) | 154 | 154 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 206 | 206 | DISULFID | By similarity. | might get lost (downstream of altered splice site) | 239 | 259 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | 260 | 500 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | 270 | 466 | DOMAIN | B30.2/SPRY. | 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 | 359 / 359 |
chromosome | 5 |
strand | 1 |
last intron/exon boundary | 600 |
theoretical NMD boundary in CDS | 191 |
length of CDS | 882 |
coding sequence (CDS) position | N/A |
cDNA position (for ins/del: last normal base / first normal base) | 164 |
gDNA position (for ins/del: last normal base / first normal base) | 12292 |
chromosomal position (for ins/del: last normal base / first normal base) | 180338368 |
original gDNA sequence snippet | CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC |
altered gDNA sequence snippet | CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC |
original cDNA sequence snippet | CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC |
altered cDNA sequence snippet | CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC |
wildtype AA sequence | MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTHRKAPQE VPHSEKRFTR KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM* |
mutated AA sequence | N/A |
speed | 0.86 s |
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