Special

HsaINT0082966 @ hg19

Intron Retention

Gene
ENSG00000198542 | ITGBL1
Description
integrin, beta-like 1 (with EGF-like repeat domains) [Source:HGNC Symbol;Acc:6164]
Coordinates
chr13:102366788-102368794:+
Coord C1 exon
chr13:102366788-102366901
Coord A exon
chr13:102366902-102367912
Coord C2 exon
chr13:102367913-102368794
Length
1011 bp
Sequences
Splice sites
5' ss Seq
CAGGTGCAG
5' ss Score
4.95
3' ss Seq
CTATATGTATTTTATTGCAGGGA
3' ss Score
8.38
Exon sequences
Seq C1 exon
GTTCTTGTCATTGTGGGAAGTGCATTTGTTCTGCTGAAGAGTGGTATATTTCTGGGGAGTTCTGTGACTGTGATGACAGAGACTGCGACAAACATGATGGTCTCATTTGTACAG
Seq A exon
GTGCAGTATTAACCTTTTCTAATTGCTCTATGCCACAGTTTGTTATAGAGCCAAGAGACACTCGTCATGCAATGCTTTAGGTGGCTGGACCAACAGGGCCAACCGTGAATATGAAATATCTACCAAAGGCGAAGTGGGCATTTGGGAAAAAGCCCTCACAAAAGCCTCACATTATTCCTAGGCATAGAAGAATACAAGAGAATGAAGCTAAATTTTGTGATTATTTGGGATCCTTCCACAAAGTAACCTCCCCACCCTCAAACTCACATGTATGCAGTTGTATATTGAACACAGAAAAGAATTTTGTTGGCAACCATTTTACTTTGAACATGGTATAGGGAATGAAATATTCTTTTAAACAGAATCTGGGTACCACTAGTTGATGTGTTGGTTGCTTTTAGGGAACTGGATGTGTGTATGGGGGAGAGGTATAAAGAGGGCTCAGCCGTGTCATAGCCACTGCTATCCTAATTTATTGAGTCCTCATAATTGGTTATAAATTCATTTGTTTAGCCAAGTTACGAGGAAACAGAGACATGTATACTTCTCCTCAGCTCTAGCTGAAGGTAAAAGATGACTCTTTGTGTGTCATTAAGTTAGACCTTTGCTTTCTGCCCATCCTTACTACGTAAGACTCTCTTCACGGATTACTTGGCCTGCCTCATGTTATGTCAAAGAGCCTTATGTTTTTCTGTATTTATTCATAAGTCAGATATAACTTGCTCTTTAAGGGAAAACAAAATTGTCACCTAAAAGCCTAGCTGGAGTGATACAGGATGGTGACTATCTGATCGGTAAAGGGTGGCACCAAATAAATGCCACTAATTGTTTGAAAGATTAGATGTCTCGCAGCTGCTTAATAAGATGTAATAATAACATCATTGCACAATAAGAAAATCTACCAAGGATGAATGAAATGATTTCATTGTGGACACTTGTGATTTATAATAGCATGTTTAAATTTGGCACATTTTGATCATAATCATGATACCTATATGTATTTTATTGCAG
Seq C2 exon
GGAATGGAATATGTAGCTGTGGAAACTGTGAATGCTGGGATGGATGGAATGGAAATGCATGTGAAATCTGGCTTGGCTCAGAATATCCTTAACAATTACATGAGAGAGGTCTGGATTCTTATTTTTTCTGGGCCATTAGAACAGATAAATGCGAAGGAAACCATGTATATTCACCACTAGGACAGGTTAAAAAGACCATTGTATGTTTTTCTATTTCTGAATTACGAATGAAATCCGAGTACCTATTAGAAATGAGTTATGCAAATTTAGATGCAAATAACATTAGAAAAAAAAGATTCTTCCATAATTAACATAAGTGGTTCCTAACGAGAGCAATTTTTCCACCCAAAAGTCATTTGGCAACATCTACAGACAATTTTGATTGTCACACTGGGTCGGGTAGGAAGGTATGCTGCAGACATTTGGTGGGTAGAGGCCAGGGATGCTGCTGAGCATCCCGCAGTGTACAGGACAGCCCCCAAACAAGGAATTATCCAGCCCCAAATGCCAATAGGGCTCAAACTGAGAAACATTGAGTTATATGGCTATTAGAAATCCACATTCTTACACAAGAAAGACCATATTAGAATCTAAGGAAAACATGCATATTCACATTAATTAATCGATCAGATTTTTCCAGAATTCCGTATCAGTCACCATTTTAATATGGGGACAATGAAGACAAGCACACAGGAGGTAGAATATCAGAGTGGGGCTGGATCAAGGGCAAAAACTGGTCATTAAGTCATCTGACATTAAATCATTTAGCCACTAAGTTATTTGTCTACTCTCACTTTAAACTCACCAAAGAAGATTCTCTTAAAGAAATTATGAAAAATGTACAATTTAACATTTTAAATAAATAGTGACAGAAGTTGTTTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198542-ITGBL1:NM_004791:10
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

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

C1:
PF079748=EGF_2=PD(61.8=53.8),PF079748=EGF_2=PU(32.3=25.6)
A:
NA
C2:
PF079748=EGF_2=PD(64.5=64.5)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGAAGTGCATTTGTTCTGCT
R:
AGGTACTCGGATTTCATTCGTAA
Band lengths:
345-1356
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