Special

HsaEX6066536 @ hg19

Exon Skipping

Gene
ENSG00000110925 | CSRNP2
Description
cysteine-serine-rich nuclear protein 2 [Source:HGNC Symbol;Acc:16006]
Coordinates
chr12:51461456-51470430:-
Coord C1 exon
chr12:51470194-51470430
Coord A exon
chr12:51467606-51467865
Coord C2 exon
chr12:51461456-51461752
Length
260 bp
Sequences
Splice sites
3' ss Seq
TCTCTGTGCTCCCTTCTCAGCCA
3' ss Score
8.66
5' ss Seq
AAGGTGCCT
5' ss Score
5.39
Exon sequences
Seq C1 exon
AATCCTAATGTACCTGGCTAGCTGGTGGTGAGTAGGGGCTTTGGGGCCAACTTGGTGGGCTCCCCAAGGAAACCCCTTTGAAACCAATGGATGCATTCACGGGCTCGGGTCTCAAGAGGAAGTTTGATGATGTGGATGTGGGCTCATCAGTTTCCAACTCAGATGATGAGATCTCCAGCAGTGATAGTGCTGACAGCTGCGACAGCCTCAATCCTCCTACCACTGCCAGCTTCACAC
Seq A exon
CCACATCCATCCTGAAGCGGCAGAAGCAGCTGCGGAGGAAGAATGTACGCTTTGACCAGGTGACTGTATACTACTTTGCCCGGCGCCAAGGTTTTACCAGTGTGCCCAGCCAGGGTGGTAGCTCTCTGGGCATGGCCCAGCGCCATAACTCTGTACGGAGCTATACACTCTGTGAGTTTGCCCAGGAACAGGAGGTGAACCATCGAGAGATTCTGCGTGAGCACCTGAAGGAAGAGAAACTCCATGCCAAGAAAATGAAG
Seq C2 exon
CTGACCAAGAATGGGACAGTGGAGTCGGTGGAGGCTGATGGCCTGACGCTGGATGATGTGTCAGATGAAGATATTGATGTGGAAAATGTGGAGGTGGATGATTACTTCTTCCTGCAGCCTCTGCCCACCAAACGGCGACGGGCCCTGCTGAGGGCTTCTGGGGTCCACCGTATTGATGCTGAAGAGAAGCAAGAACTTCGAGCCATCCGCCTGTCACGGGAAGAATGTGGTTGTGACTGCCGACTGTATTGTGACCCAGAAGCGTGTGCCTGCAGCCAGGCTGGGATTAAATGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000110925-'3-4,'3-3,4-4=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.608 A=0.253 C2=0.010
Domain overlap (PFAM):

C1:
NO
A:
PF098174=DUF2352=PU(32.6=35.6)
C2:
PF098174=DUF2352=PD(65.3=62.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATAGTGCTGACAGCTGCGAC
R:
TCGGCAGTCACAACCACATTC
Band lengths:
298-558
Functional annotations
There are 1 annotated functions for this event
PMID: 19389623
This event
Encodes an experimentally validated Eukaryotic Linear Motif (ELM). Method: coimmunoprecipitation, far western blotting, mutation analysis, pull down. ELM ID: ELMI002633; ELM sequence: TSILKR; Overlap: FULL


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains