Prediction |
polymorphism |
Model: without_aae, prob: 2.927303625372e-66 (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) | chr1:156347131G>AN/A
show variant in all transcripts IGV
|
| HGNC symbol | RHBG |
| Ensembl transcript ID | ENST00000537040 |
| Genbank transcript ID | N/A |
| UniProt peptide | Q9H310 |
| alteration type | single base exchange |
| alteration region | intron |
| DNA changes | g.8129G>A |
| AA changes | N/A |
position(s) of altered AA
if AA alteration in CDS | N/A |
| frameshift | N/A |
| known variant | Reference ID: rs2245623
| database | homozygous (A/A) | heterozygous | allele carriers |
| 1000G | 229 | 897 | 1126 |
| ExAC | 9393 | 13981 | 23374 |
|
| regulatory features | H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II |
| phyloP / phastCons | | PhyloP | PhastCons |
| (flanking) | 5.493 | 1 | | 5.493 | 1 | | (flanking) | 1.043 | 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 increased | 8129 | wt: 0.52 / mu: 0.59 | wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC
mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC | ttgg|CTTC |
|
| distance from splice site | 4007 |
| Kozak consensus sequence altered? | N/A |
conservation
protein level for non-synonymous changes | N/A |
| protein features | | start (aa) | end (aa) | feature | details | | | 62 | 82 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 83 | 86 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 87 | 107 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 108 | 124 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 125 | 145 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 146 | 149 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 150 | 170 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 171 | 178 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 179 | 201 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 202 | 219 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 220 | 240 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 241 | 251 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 252 | 272 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 273 | 282 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 283 | 303 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 304 | 304 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 305 | 325 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 326 | 346 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 347 | 367 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 368 | 393 | TOPO_DOM | Extracellular (Potential). | might get lost (downstream of altered splice site) | | 394 | 414 | TRANSMEM | Helical; (Potential). | might get lost (downstream of altered splice site) | | 415 | 441 | TOPO_DOM | Cytoplasmic (Potential). | might get lost (downstream of altered splice site) | | 416 | 424 | REGION | Interaction with ANK3. | might get lost (downstream of altered splice site) | | 419 | 419 | MUTAGEN | F->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421. | might get lost (downstream of altered splice site) | | 420 | 420 | MUTAGEN | L->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421. | might get lost (downstream of altered splice site) | | 421 | 421 | MUTAGEN | D->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420. | 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 | 39 / 39 |
| chromosome | 1 |
| strand | 1 |
| last intron/exon boundary | 515 |
| theoretical NMD boundary in CDS | 426 |
| length of CDS | 687 |
| 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) | 8129 |
chromosomal position
(for ins/del: last normal base / first normal base) | 156347131 |
| original gDNA sequence snippet | CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC |
| altered gDNA sequence snippet | CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC |
| original cDNA sequence snippet | N/A |
| altered cDNA sequence snippet | N/A |
| wildtype AA sequence | MAGSPSRAAG RRLQLPLLCL FLQGATAVLF AVFVRYNHKT DAALWHRSNH SNADNEFYFR
YPRTIFLWIF WPSFNAALTA LGAGQHRTAL NTYYSLAAST LGTFALSALV GEDGRLDMVH
IQNAALAGGV VVGTSSEMML TPFGALAAGF LAGTVSTLGP SLNQNSKSKT HVESTTSMGC
RGSWGPSWGS LWLDLPPMKL TEMGEFPPNP YCSRHPSGMT SVILFHCV* |
| mutated AA sequence | N/A |
| speed | 1.18 s |
|
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