Special

HsaINT0033070 @ hg38

Intron Retention

Gene
Description
chymotrypsin like elastase family member 1 [Source:HGNC Symbol;Acc:HGNC:3308]
Coordinates
chr12:51328443-51329833:-
Coord C1 exon
chr12:51329684-51329833
Coord A exon
chr12:51328595-51329683
Coord C2 exon
chr12:51328443-51328594
Length
1089 bp
Sequences
Splice sites
5' ss Seq
AATGTGAGT
5' ss Score
7.8
3' ss Seq
CATAACTGTCTTTCCTTCAGGTC
3' ss Score
11.88
Exon sequences
Seq C1 exon
GGTGACTCTGGGGGCCCCCTCCATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCTGCTTACATCTCCTGGATAAATAAT
Seq A exon
GTGAGTCCTCTCAAATGATGGGTTGAAATGGGGTCACCTGGAGACCTACGCACTGGCTGGGTTGGGGAACAAACGTTGGATGGACTGGGCAAGCCGTCATCTTCCTTACCACATTCATGTGTTTACTCCCTTCCCTTCCTTCCACGGTGTACTTTCCTTCAATAAGGCTGCCATCCTGAATTCCCTCCCCTCCACATACCCACAGAGCAGACTTCACTGTATTGTTTATTGCTTAGGGTAAGACAGTGGCAACATCAAATCTGAATCAGGGACATATCAGTGCCTTCCTAAGTCAAAGCCCAGGGAAAAACAGGTTCAGAAAGGCCTGCGTACTCCTAGGCAAGGGAAGGAGGCACCGACTTCCTCTCCCACAACGTCTTTCTAAGGACATTATGATAATTTGCTCTAACTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCTTGATCTCGACTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGTTGGGATTATAGGCATGCACCACCAAACCTGGTAAATTTTTTTTGTATTTTTAGTAGAGATCGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCACCCAAAGTGCTGGGATTACAGGCATGAGCCACAGCGCCCGGCCTGCTCTAATTTTTGACAGGTTTTACCACCTTAAATAATGCTTGAGAGTTAGGTGAGGCTCTGCCTACACTGACCTGGTGGAAAGGCCACACAACACATTTCACTGTGCCCTCCACCCTTCAAACACATTCTGGAGCCTTGTGTATTAATCTTGGCTCACGGCCATTTCAAGGTCTGTCTTTGCCACTGTATTCTGGGTATGTACCTATAACACTGAGCTGTCCTATCACAGTTGAGGCTGACTTCCTGCCTCCCTGTCCCCACACCCTGTCAACTTCCCATAAACCCAGTACAAAACCATACTTAACTGGGAGCCCTGAGGAAACAAGAAAGGAGGTAGGCAGGAGTTACTGACTGTGGACATAACTGTCTTTCCTTCAG
Seq C2 exon
GTCATCGCCTCCAACTGAACATTTTCCTGAGTCCAACGACCTTCCCAAAATGGTTCTTAGATCTGCAGTAGGACTTGCGATCAAAAAGTAAAACACATTCTGAAAGACTATTGAGCCATTGATAGAAAAGCAAATAAAACTAGATATACATT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139610:ENST00000293636:7
Average complexity
IR
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:
PF0008921=Trypsin=PD(20.2=94.0)
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCTCCATTGCTTGGTGAAT
R:
ATTTGCTTTTCTATCAATGGCTCA
Band lengths:
270-1359
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