Special

HsaINT0175991 @ hg19

Intron Retention

Gene
ENSG00000197355 | UAP1L1
Description
UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 [Source:HGNC Symbol;Acc:28082]
Coordinates
chr9:139975141-139976516:+
Coord C1 exon
chr9:139975141-139975326
Coord A exon
chr9:139975327-139976449
Coord C2 exon
chr9:139976450-139976516
Length
1123 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
3' ss Seq
GACAAGTGGACTTTCCCTAGCTT
3' ss Score
1.66
Exon sequences
Seq C1 exon
GAACTTTGCTGCCTTGGAAGTGCTGCGGGAGGAGGAATTTTCCCCACTGAAGAACGCAGAGCCAGCCGACAGGGACAGTCCCCGCACCGCTCGCCAGGCCCTGCTCACCCAGCACTACCGGTGGGCTCTGCGGGCCGGGGCCCGCTTCCTGGATGCCCATGGGGCCTGGCTCCCAGAGCTGCCCAG
Seq A exon
GTGAGTGTGGCCCTGGGGTAGCTACAGCCAGAAGGGGAGGGCTGTCAGGACCCAATCTTCAGCTCCAGAGCCCTGTTGGCTCTGCGACAGCCATGCTGGGGAGGGGTCTTCCTTCCCGGCACCACCGCAGGTGCAGGTAGCCTTGTGCCCAGCCAGCTCCAGGTCACACGGTGACTGTCGGCACAGCCTCCTGGCCCGACCCTTCAAGTTGTGCTCAGTGCACTGAGGGAGGCAGGGGCTCCCCAACTCCCTCCCCAACTTATCCACAAGGTTTTGGTTTGTTTACAAAGGCATACTTAGATTTGGCTTTTATTTATTTATTTTTATTTTTATTTACTTTTTTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGTAGTGCAGTGGTGGGATCTCGGCTCGCTGCAAGCTCCACCCTCCCCCGGTTTCCGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTCATTTTTTTGTATTTTTTTTTTTTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCAAACTCCTGACCTGTGATCTGCCCGCCTCGGCCTCGCAAAGTGCTGGGATTACAGGCGTGAGCCACCTCACCCGGCTATTTTTTTATTTTTATTTTTCTTATTTGTATACATTTGTGGGGTGTGTGTGCAACTTTGGTCAGTCAGGTCAGGGCTTTTAGGGGATCCATCACCCAACCAACGTTGTTCCCATTTATTCACAGGCTTTGAAACTGAGCCCCGGGCATGAATTTAGAAAGTAGCAGGACAGTTTGATTTCAGGGCTGGGAAAGAAAAGGACGTTTGGCTTCCATCTCCCTGATTTTCTAGGGCCACCCCTAAATCTAGCTGCCTAGGCTCTGCGTGGGAGGCCTGTGGGGGTGCTTTCTACCCCAAATCAGGTCCTGTCACTTGGCAGTGGGATGTGTGCTCAGGGTTTGGGGTGTCCAGAGGAAGATGAGCTTGCTGAGACAGGAGCTGTGGGGAGCCAGGTGTGTAGAGCTCAGTCTCCTATCGGGACTGGGGGTGCTGGGGGAGGGCTCTGGGCAGGTGCTGCAAGGAGATATTGACAAGTGGACTTTCCCTAG
Seq C2 exon
CTTGCCCCCAAATGGAGACCCTCCGGCCATCTGTGAGATATCGCCCTTGGTGTCTTACTCTGGAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197355-UAP1L1:NM_207309:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.265 A=NA C2=0.174
Domain overlap (PFAM):

C1:
PF0170413=UDPGP=FE(20.6=100)
A:
NA
C2:
PF0170413=UDPGP=PD(2.0=26.1)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTTGCTGCCTTGGAAGTGC
R:
CAGAGTAAGACACCAAGGGCG
Band lengths:
246-1369
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains