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
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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 |
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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) |
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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 | 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 | 0.87 s |
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