|
|
mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 4.9404332948582e-10 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | ||||||||||||
| Summary |
|
hyperlink | ||||||||||||
| analysed issue | analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| name of alteration | no title | |||||||||||||
| alteration (phys. location) | chr7:139026152T>GN/A show variant in all transcripts IGV | |||||||||||||
| HGNC symbol | LUC7L2 | |||||||||||||
| Ensembl transcript ID | ENST00000541170 | |||||||||||||
| Genbank transcript ID | N/A | |||||||||||||
| UniProt peptide | N/A | |||||||||||||
| alteration type | single base exchange | |||||||||||||
| alteration region | intron | |||||||||||||
| DNA changes | g.1048T>G | |||||||||||||
| AA changes | N/A | |||||||||||||
| position(s) of altered AA if AA alteration in CDS | N/A | |||||||||||||
| frameshift | N/A | |||||||||||||
| known variant | Reference ID: rs10265
| |||||||||||||
| regulatory features | Ini1, Transcription Factor, Ini1 Transcription Factor Binding p300, Transcription Factor, p300 Transcription Factor Binding H4K5ac, Histone, Histone 4 Lysine 5 Acetylation ELF1, Transcription Factor, ELF1 Transcription Factor Binding Promoter Associated, Regulatory Feature, Promoter like regulatory feature H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation Max, Transcription Factor, Max TF binding H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation GTF2B, Transcription Factor, GTF2B Transcription Factor Binding H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation E2F6, Transcription Factor, E2F6 Transcription Factor Binding PolII, Polymerase, RNA Polymerase II H3K36ac, Histone, Histone 3 Lysine 36 Acetylation H2AZ, Histone, Histone 2A variant Z H4K91ac, Histone, Histone 4 Lysine 91 Acetylation Non-Gene Associated, Regulatory Feature, Non-Gene associated regulatory feature HEY1, Transcription Factor, HEY1 Transcription Factor Binding Cmyc, Transcription Factor, Cmyc TF binding H3K18ac, Histone, Histone 3 Lysine 18 Acetylation Jund, Transcription Factor, Jund TF binding H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation H3K9ac, Histone, Histone 3 Lysine 9 Acetylation CTCF, Transcription Factor, CCCTC-binding factor Yy1, Transcription Factor, Yy1 Transcription Factor Binding Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding H3K27ac, Histone, Histone 3 Lysine 27 Acetylation H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation TAF1, Transcription Factor, TAF1 Transcription Factor Binding H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation PolIII Transcription Associated, Regulatory Feature, PolIII transcribed RNA gene associated regulatory feature Znf263, Transcription Factor, Znf263 TF binding H3K4ac, Histone, Histone 3 Lysine 4 Acetylation TFIIIC-110, Transcription Factor, TFIIIC-110 Transcription Factor Binding DNase1, Open Chromatin, DNase1 Hypersensitive Site ZBTB7A, Transcription Factor, ZBTB7A Transcription Factor Binding H4K8ac, Histone, Histone 4 Lysine 8 Acetylation | |||||||||||||
| phyloP / phastCons |
| |||||||||||||
| splice sites | no abrogation of potential splice sites | |||||||||||||
| distance from splice site | 889 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| conservation protein level for non-synonymous changes | N/A | |||||||||||||
| protein features | N/A | |||||||||||||
| 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 | 185 / 185 | |||||||||||||
| chromosome | 7 | |||||||||||||
| strand | 1 | |||||||||||||
| last intron/exon boundary | 1177 | |||||||||||||
| theoretical NMD boundary in CDS | 942 | |||||||||||||
| length of CDS | 1170 | |||||||||||||
| 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) | 1048 | |||||||||||||
| chromosomal position (for ins/del: last normal base / first normal base) | 139026152 | |||||||||||||
| original gDNA sequence snippet | TGGCGGCCTTAGGGTCCCCGTCGCACACTTTTCGAGGACTT | |||||||||||||
| altered gDNA sequence snippet | TGGCGGCCTTAGGGTCCCCGGCGCACACTTTTCGAGGACTT | |||||||||||||
| original cDNA sequence snippet | N/A | |||||||||||||
| altered cDNA sequence snippet | N/A | |||||||||||||
| wildtype AA sequence | MVIHSQLKKI QGASERMGDT TRQRIKFSDD RVCKSHLLNC CPHDVLSGTR MDLGECLKVH DLALRADYEI ASKEQDFFFE LDAMDHLQSF IADCDRRTEV AKKRLAETQE EISAEVAAKA ERVHELNEEI GKLLAKVEQL GAEGNVEESQ KVMDEVEKAR AKKREAEEVY RNSMPASSFQ QQKLRVCEVC SAYLGLHDND RRLADHFGGK LHLGFIEIRE KLEELKRVVA EKQEKRNQER LKRREERERE EREKLRRSRS HSKNPKRSRS REHRRHRSRS MSRERKRRTR SKSREKRHRH RSRSSSRSRS RSHQRSRHSS RDRSRERSKR RSSKERFRDQ DLASCDRDRS SRDRSPRDRD RKDKKRSYES ANGRSEDRRS SEEREAGEI* | |||||||||||||
| mutated AA sequence | N/A | |||||||||||||
| speed | 1.02 s | |||||||||||||