Special

HsaINT0017371 @ hg19

Intron Retention

Gene
Description
breakpoint cluster region [Source:HGNC Symbol;Acc:1014]
Coordinates
chr22:23615268-23615961:+
Coord C1 exon
chr22:23615268-23615320
Coord A exon
chr22:23615321-23615820
Coord C2 exon
chr22:23615821-23615961
Length
500 bp
Sequences
Splice sites
5' ss Seq
CATGTAAGT
5' ss Score
8.31
3' ss Seq
AGTCTTTCTTCCTGGGGCAGGAC
3' ss Score
6.14
Exon sequences
Seq C1 exon
CTCTGCTCTACAAGCCTGTGGACCGTGTGACGAGGAGCACGCTGGTCCTCCAT
Seq A exon
GTAAGTCACAGCGCCCCTCTGGACCGGGACCAAAACTGCCCCCTCGGGCACACACAGCAACAATGTTCTGAGACCTTTTTTTAGTTGTCATAGCTGCAGCCAAGGGGGTGCTACTGGCATCTAATGGGTAGAGGCCTGGGGTGGTGTTGGACATTCTGTAGGGAAAGGACAGCTCTCTCTTGTCCCTCCACAAAGAGTTACTCCACGCAAAATGTCCACAGTGCTGAGGTTGAGAAACCCTGCCCTAGATCCTTACAGAGGAGTCCTTCTTGGCCATGTGCATGCAGCGTGAGTTTGCTGGAACACATGTAGGACCTGCTTCCAGGATGGTGCTCACACAAGCTCTGTCCACAAAGCTGGGGCCCAAGTGAGAGAGACTGTGGTGACACTGAGGGAGCCGGCGCTCTGGGCTCCGTCCACACTTTGTGTCTGCACTTTGCACACAGTGGCAGGTGCCAGTGCTCCTCTGTGTCTAACTCAAGTCTTTCTTCCTGGGGCAG
Seq C2 exon
GACTTGCTGAAGCACACTCCTGCCAGCCACCCTGACCACCCCTTGCTGCAGGACGCCCTCCGCATCTCACAGAACTTCCTGTCCAGCATCAATGAGGAGATCACACCCCGACGGCAGTCCATGACGGTGAAGAAGGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186716-BCR:NM_021574:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.268
Domain overlap (PFAM):

C1:
PF0062115=RhoGEF=FE(24.3=100)
A:
NA
C2:
PF0062115=RhoGEF=PD(16.4=66.0),PF0016924=PH=PU(0.6=2.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
(bcr)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCTACAAGCCTGTGGACC
R:
CTCTCCCTTCTTCACCGTCATG
Band lengths:
190-690
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