Special

HsaEX0053043 @ hg38

Exon Skipping

Gene
ENSG00000214022 | REPIN1
Description
replication initiator 1 [Source:HGNC Symbol;Acc:HGNC:17922]
Coordinates
chr7:150368272-150374039:+
Coord C1 exon
chr7:150368272-150368318
Coord A exon
chr7:150369671-150369868
Coord C2 exon
chr7:150371228-150374039
Length
198 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTTCCCTCCCCACAGGTA
3' ss Score
14.75
5' ss Seq
AGGGTAGAG
5' ss Score
0.88
Exon sequences
Seq C1 exon
CTTTTTGTGCTCCACTTTGGAACAAATCGGAAGCTAGGGCCTTCCAG
Seq A exon
GTAAGGCTGGCCTCTCTGCAGTCAGAGGTCTGAGCTCTGCCATGGGGATAGGGGTGTCTTTATTACTGCAGTTTTCTCTAACACCTGGGGGCTACCGGAGTGTGGGCCGAAGCAGGCGCTGCAGCCGCGGAAGTATCCCCAGGAACATCCCCAAGAGGAGCTGGAAAAAGCCTCATCCCCAGCTCTGCAGTCTCCAGG
Seq C2 exon
CAGAGGAAGAACCGATGCTGGAACGTCGTTGCAGGGGCCCCCTGGCCATGGGCCTGGCCCAGCCCCGACTCCTTTCTGGGCCCTCCCAGGAGTCACCCCAGACCCTGGGGAAGGAGTCCCGCGGGCTGAGGCAACAAGGCACGTCAGTGGCCCAGTCTGGTGCCCAAGCCCCAGGCAGGGCCCATCGCTGTGCCCACTGTCGAAGGCACTTCCCTGGCTGGGTGGCTCTGTGGCTTCACACCCGCCGGTGCCAGGCCCGGCTGCCCTTGCCCTGCCCTGAGTGTGGCCGTCGCTTTCGCCATGCCCCCTTCTTAGCACTGCACCGCCAGGTCCATGCTGCTGCCACCCCAGACCTGGGCTTTGCCTGCCACCTCTGTGGGCAGAGCTTCCGAGGCTGGGTGGCCCTGGTTCTGCATCTGCGGGCCCATTCAGCTGCAAAGCGGCCCATCGCTTGTCCCAAATGCGAGAGACGCTTCTGGCGACGAAAGCAGCTTCGAGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000214022_MULTIEX1-1/2=C1-C2
Average complexity
C1*
Mappability confidence:
100%=100=100%
Protein Impact

NA

Show structural model
Features
Disorder rate (Iupred):
  C1=NA A=0.355 C2=0.401
Domain overlap (PFAM):

C1:
NA
A:
NO
C2:
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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
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:
AACAAATCGGAAGCTAGGGCC
R:
AGGGAAGTGCCTTCGACAGT
Band lengths:
242-440
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