Special

HsaEX0053620 @ hg38

Exon Skipping

Gene
Description
replication timing regulatory factor 1 [Source:HGNC Symbol;Acc:HGNC:23207]
Coordinates
chr2:151411260-151416688:+
Coord C1 exon
chr2:151411260-151411338
Coord A exon
chr2:151414823-151414919
Coord C2 exon
chr2:151416561-151416688
Length
97 bp
Sequences
Splice sites
3' ss Seq
ATGTGATTTTGTTTTTGTAGACT
3' ss Score
8
5' ss Seq
CAGGTAGAT
5' ss Score
7.25
Exon sequences
Seq C1 exon
TCGTATGACTGGAGAAGAAGGAAAAGAAGTAATTACAGAAATTGAGAAAAAACTTCCTCGGCTGTACAAAGTTTTAAAG
Seq A exon
ACTCACATTTCCAGTCAAAACTCGGAGCTGAGTAGTGCTGCTCTACAAGCCCTGGGGTTTTGCTTATATAATCCCAAAATTACCTCAGAATTATCAG
Seq C2 exon
AGGCAAATGCTCTAGAATTGCTTTCAAAATTGAATGATACCATTAAGAATTCAGACAAAAATGTACGTACTAGAGCACTTTGGGTGATATCTAAGCAGACATTTCCCTCTGAAGTGGTTGGCAAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000080345_MULTIEX2-1/3=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=0.170 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF122313=Rif1_N=FE(7.3=100)
A:
PF122313=Rif1_N=FE(8.9=100)
C2:
PF122313=Rif1_N=FE(11.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGTATGACTGGAGAAGAAGGA
R:
ATCACCCAAAGTGCTCTAGTACG
Band lengths:
167-264
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