HsaINT0015957 @ hg19
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:14188]
Coordinates
chr12:58194927-58196131:-
Coord C1 exon
chr12:58195943-58196131
Coord A exon
chr12:58194996-58195942
Coord C2 exon
chr12:58194927-58194995
Length
947 bp
Sequences
Splice sites
5' ss Seq
AGTGTAAGA
5' ss Score
4.57
3' ss Seq
TTTCTCTCTCTTCTTCTCAGGCA
3' ss Score
10.81
Exon sequences
Seq C1 exon
GTGTTCTTGTGGATTGGGGCTGAGGCCAATGCCACGGAGAAGGAGAGTGCCCTTGCCACAGCACAGCAGTACCTGCACACTCACCCCAGCGGCCGAGATCCCGACACACCAATCCTGATCATTAAGCAGGGGTTTGAGCCTCCCATCTTCACAGGCTGGTTCCTAGCCTGGGACCCTAACATTTGGAGT
Seq A exon
GTAAGAAAAGAGAGTAGGGAAGCTCTAACTTCCTGCCAGGTAGCTCAGAACAGCTCAGTGGGCAGGAAGGTGGAGTACTGATTCACGGCTCAGTGAAACCAGGACCTCATTTCCCTACTCCCATCCCACTCCCTGCCTTTTACTTTTCTCCTCTTTTTCACCTGCCACAGCAGTAAGTCCAGGTGGACAATTCACAGCAGGTGTCAGCAATAAGCAGTGTGAAGTATAAACAGTTTATAAAGTATATCCATACACATCATCTTTTTGATCTTTACAACAATCCTGATAGCCAGTAGAAGTATTGCTCCCTATTTTATTGATAAGGAAGCTAAGAGGATAAGTCATTTGTCTAAAGTCACAGTTAATCAACAGAAAGCCAGGTTTCCTGACTCCTAATCAACTTTTTTTTTTCTTTTTTTGAGACAGAATTTCGCTCTTGTTGTCCAGGCTGGAGTGTAATGGCACAATCTCGGCTCACTGCAACCTCTACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCATGCCCAGCTAATTTTTCTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTAGTCTTGAACCCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTCAACTGCTCTTTCTTAAATCTTATTGGGAGGACTGAGGGGTTACCATCAAAGAATGTGCGTTATGTTTAAGCACCTTTCAAGCCTGCATGGACCCAAAAGGGGGGATTTTCATTTTTACTTATCCTTGAAATGTCTTCTGACTCCCTGGCTCTTTTGCTTTTCCTGAAGACACAGACCAGACCTAAGATGTCCCTCCCCTATAAGAAAGACCTCATCCTGTGTTTTCTCTCTCTTCTTCTCAG
Seq C2 exon
GCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407-AVIL:NM_006576:16
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.206 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(63.3=79.4)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGTTCTTGTGGATTGGGGCT
R:
AGTGATTCGCATGATAGCAGCA
Band lengths:
255-1202
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)