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
|
hyperlink |
| analysed issue |
analysis result |
| name of alteration | no title |
| alteration (phys. location) | chr5:180338368A>GN/A
show variant in all transcripts IGV
|
| HGNC symbol | BTNL8 |
| Ensembl transcript ID | ENST00000533815 |
| Genbank transcript ID | NM_001159710 |
| 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 |
|
| 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 -44) | splice site change before start ATG (at aa -42) | | 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 marginally increased | 12300 | wt: 0.7056 / mu: 0.7155 (marginal change - not scored) | wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT | atat|GTTG | | 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 increased | 12284 | wt: 0.29 / mu: 0.38 | wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG | tcat|TTCC | | 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 | 12282 | wt: 0.2015 / mu: 0.2457 (marginal change - not scored) | wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT | tctc|ATTT |
|
| 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) |
|
| 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 | 290 / 290 |
| chromosome | 5 |
| strand | 1 |
| last intron/exon boundary | 600 |
| theoretical NMD boundary in CDS | 260 |
| length of CDS | 951 |
| 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 | MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTHRKA PQEVPHSEKR FTRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM* |
| mutated AA sequence | N/A |
| speed | 0.81 s |
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