HsaEX0054175 @ hg38
Exon Skipping
Gene
ENSG00000111880 | RNGTT
Description
RNA guanylyltransferase and 5'-phosphatase [Source:HGNC Symbol;Acc:HGNC:10073]
Coordinates
chr6:88929164-88963721:-
Coord C1 exon
chr6:88963537-88963721
Coord A exon
chr6:88941071-88941180
Coord C2 exon
chr6:88929164-88929267
Length
110 bp
Sequences
Splice sites
3' ss Seq
TACCTATCTGTGTTGTTTAGGAA
3' ss Score
7.87
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
ATTCGTCGCGTCCTTAACTCTTTGCTATCCTTCCGCTGAGCTTCCTCTTCTTTCCCTCTGACCTCGGAAAGGGGGCGGGGCTTTCGGGGGCGGAAGTTGCGGTGCATTGTGGGTTCTCCTGGAGCTGTGGAGTTGATCCTGAATGAAAGTGGCGCGCCGCCCCTGACGTTACCCGGATCGGAGAG
Seq A exon
GAAGATTCTTACCTCTGAAGACAATGTTAGGACCAAGATATGATAGTCAAGTTGCTGAAGAAAATCGGTTCCATCCCAGCATGCTCTCAAATTACCTAAAGAGCCTAAAG
Seq C2 exon
GTTAAAATGGGCTTGTTGGTGGACCTGACAAATACTTCAAGGTTCTATGACCGAAATGACATAGAAAAAGAAGGAATCAAATATATAAAACTTCAGTGTAAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111880_MULTIEX1-1/3=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0078215=DSPc=PU(9.0=32.4)
C2:
PF0078215=DSPc=FE(25.4=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGTCGCGTCCTTAACTCTTTG
R:
TGTCATTTCGGTCATAGAACCTTGA
Band lengths:
244-354
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development