HsaEX0052830 @ hg38
Exon Skipping
Gene
ENSG00000135870 | RC3H1
Description
ring finger and CCCH-type domains 1 [Source:HGNC Symbol;Acc:HGNC:29434]
Coordinates
chr1:173947369-173961244:-
Coord C1 exon
chr1:173961077-173961244
Coord A exon
chr1:173951986-173952138
Coord C2 exon
chr1:173947369-173947582
Length
153 bp
Sequences
Splice sites
3' ss Seq
TTTTCTTTCTCCATCTGTAGTTT
3' ss Score
9.8
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
GAACCTCCTTATAGCCGGCTTCCTCCTCCTCCCCAGCCTCATCCTAGTCTAGATGAACTACATCGCCGACGAAAGGAAATAATGGCCCAGCTAGAGGAAAGAAAGGTTATCTCTCCACCTCCTTTTGCACCTTCACCAACCTTGCCTCCTACCTTTCATCCGGAAGAA
Seq A exon
TTTTTGGATGAAGACTTGAAGGTAGCTGGGAAATACAAAGGAAATGATTATAGCCAATACTCTCCCTGGTCATGTGACACCATCGGCTCCTACATTGGAACCAAAGATGCAAAACCCAAAGATGTTGTGGCAGCAGGGAGTGTGGAAATGATG
Seq C2 exon
AATGTGGAGAGTAAAGGAATGAGGGACCAGCGATTAGATCTTCAGAGAAGAGCAGCAGAAACCAGTGATGATGACCTCATCCCATTTGGAGACCGACCAACAGTGTCTCGGTTTGGTGCCATCTCACGAACTTCCAAAACTATATATCAGGGTGCTGGTCCAATGCAGGCTATGGCACCTCAGGGAGCTCCTACAAAATCTATTAACATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135870_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.982 A=0.353 C2=0.861
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCCCAGCCTCATCCTAGTC
R:
AAACCGAGACACTGTTGGTCG
Band lengths:
254-407
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