Special

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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
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