Special

HsaINT0062537 @ hg19

Intron Retention

Gene
Description
fibrillin 3 [Source:HGNC Symbol;Acc:18794]
Coordinates
chr19:8161765-8162298:-
Coord C1 exon
chr19:8162173-8162298
Coord A exon
chr19:8161891-8162172
Coord C2 exon
chr19:8161765-8161890
Length
282 bp
Sequences
Splice sites
5' ss Seq
AAGGTGCCA
5' ss Score
3.41
3' ss Seq
CATTTGCTGTATTTTCCCAGATG
3' ss Score
7.72
Exon sequences
Seq C1 exon
ACATTGATGAGTGTGGGGAGATCCCCGCCATCTGTGCCAATGGCATCTGCATAAACCAGATCGGGAGTTTCCGCTGCGAGTGCCCCGCAGGCTTCAACTACAACAGCATCCTGCTGGCTTGTGAAG
Seq A exon
GTGCCACCTCTCCCTGTTCCCAGCCCTGGGGCCTGGGTGGGATGCATGTCCGCCACTGTGCAATCTGGGCGAGTAACTAAAACTCTGTAAGCCTCCATTTCCCTGTATGTATAATGGGCTAACACCTTTCCAAGGGCCTCCATCTCATATAACCACCCTTACTCCAGCTCTGGCTGCTTCCAGAGAAACCACCTGCTCCGAAGCAGTGGACTGGGTTTCACGTTTGATTCTGTCAGGATGGGCTTCTCTGTCACCCCCACCTCATTTGCTGTATTTTCCCAG
Seq C2 exon
ATGTCGATGAGTGTGGCAGCAGGGAGAGTCCCTGCCAGCAGAATGCTGACTGCATCAACATCCCCGGTAGCTACCGCTGCAAGTGCACCCGAGGGTACAAACTGTCGCCAGGCGGGGCTTGTGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000142449-FBN3:NM_032447:41
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=0.000
Domain overlap (PFAM):

C1:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=PU(29.2=81.4),PF0764510=EGF_CA=PU(0.1=0.0)
A:
NA
C2:
PF0764510=EGF_CA=WD(100=95.3),PF062476=Plasmod_Pvs28=FE(56.8=100),PF062476=Plasmod_Pvs28=PU(22.2=81.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
LOW PSI
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATTGATGAGTGTGGGGAGA
R:
TGGCGACAGTTTGTACCCTCG
Band lengths:
236-518
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