HsaEX0053044 @ hg19
Exon Skipping
Gene
ENSG00000214022 | REPIN1
Description
replication initiator 1 [Source:HGNC Symbol;Acc:17922]
Coordinates
chr7:150066760-150068769:+
Coord C1 exon
chr7:150066760-150066957
Coord A exon
chr7:150067849-150067973
Coord C2 exon
chr7:150068317-150068769
Length
125 bp
Sequences
Splice sites
3' ss Seq
TTGCTTCATCTGTTAAACAGGGA
3' ss Score
7.22
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GTAAGGCTGGCCTCTCTGCAGTCAGAGGTCTGAGCTCTGCCATGGGGATAGGGGTGTCTTTATTACTGCAGTTTTCTCTAACACCTGGGGGCTACCGGAGTGTGGGCCGAAGCAGGCGCTGCAGCCGCGGAAGTATCCCCAGGAACATCCCCAAGAGGAGCTGGAAAAAGCCTCATCCCCAGCTCTGCAGTCTCCAGG
Seq A exon
GGAGCTCAGTGTCTGTTTGTCCAGCTTCTCAGAGTTGCTGTGCAGCTCGGATGTGGCATAGGAAACAGCAGACACAGGGAGAGGGCAGCATAAGGCACTGTAGGGAGCAGTGGCCACATTTTCTG
Seq C2 exon
CAGAGGAAGAACCGATGCTGGAACGTCGTTGCAGGGGCCCCCTGGCCATGGGCCTGGCCCAGCCCCGACTCCTTTCTGGGCCCTCCCAGGAGTCACCCCAGACCCTGGGGAAGGAGTCCCGCGGGCTGAGGCAACAAGGCACGTCAGTGGCCCAGTCTGGTGCCCAAGCCCCAGGCAGGGCCCATCGCTGTGCCCACTGTCGAAGGCACTTCCCTGGCTGGGTGGCTCTGTGGCTTCACACCCGCCGGTGCCAGGCCCGGCTGCCCTTGCCCTGCCCTGAGTGTGGCCGTCGCTTTCGCCATGCCCCCTTCTTAGCACTGCACCGCCAGGTCCATGCTGCTGCCACCCCAGACCTGGGCTTTGCCTGCCACCTCTGTGGGCAGAGCTTCCGAGGCTGGGTGGCCCTGGTTCTGCATCTGCGGGCCCATTCAGCTGCAAAGCGGCCCATCGCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000214022-'6-22,'6-19,12-22
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.365 A=0.143 C2=0.386
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0009621=zf-C2H2=WD(100=4.0),PF0009621=zf-C2H2=WD(100=4.0),PF138941=zf-C2H2_4=WD(100=4.2),PF0009621=zf-C2H2=WD(100=4.0),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.4),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.6),PF134651=zf-H2C2_2=WD(100=4.6),PF138941=zf-C2H2_4=WD(100=4.2)


Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAAAGCCTCATCCCCAGCTC
R:
GAAGTGCCTTCGACAGTGGG
Band lengths:
246-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)