Special

HsaINT1044712 @ hg38

Intron Retention

Gene
ENSG00000176040 | TMPRSS7
Description
transmembrane protease, serine 7 [Source:HGNC Symbol;Acc:HGNC:30846]
Coordinates
chr3:112063525-112066502:+
Coord C1 exon
chr3:112063525-112063632
Coord A exon
chr3:112063633-112066391
Coord C2 exon
chr3:112066392-112066502
Length
2759 bp
Sequences
Splice sites
5' ss Seq
GCGGTGGGT
5' ss Score
6.6
3' ss Seq
GTTTTTATTTTTTATTCTAGTGA
3' ss Score
8.16
Exon sequences
Seq C1 exon
CCTGCCCTGTTGGATCTTTTAGATGCTCCTCCGGTTTATGTGTCCCTCAGGCCCAGCGTTGTGATGGAGTAAATGACTGCTTTGATGAAAGTGATGAACTGTTTTGCG
Seq A exon
GTGGGTATTCAAGATTTTAATATGACTTTCTTATGAATAAGTAACTTCTCAGGACCATGATTGCTGCTGATATATATCCTTAGTATTTGTAGTTATTATCTATTACTGCATAACCAACTACCCCAAAACCCAGTGACTTAAACAATCATTTATTCTTGATCATGCATCTGTGGATTTTCTGGGATCTGACTAATCTAGGCTGGGCTCATATGGGTGGCTCTGCTTCAAGCATTGGGTCCACCTGAGCTTGGTTCTTCCAATATTGGAATCAGCTCTACTTTTGATGGCTCTTTTCCTCATTGAGCCAGTGGGCTAGTCATGGCAGTGGCAAAAGGAAAAGAGGGGAGAGCAGCAGCACATGGTTTCTCATAAGGCCTGGGCTTGGAACTGGCACACCATCATTTGTGTTACATTCTATTGTTCAAATCAAGTCACATACTTGAGAACAAAGTCAGGGGCAGGGAAATTCACTCTGTACACCTTGGGGCTATGGTAACACTGGGGTGCATAATACTACCACGGGGAGTAAAGATCTGTGGCTAATAATTTAATTTACCACAATCTTAAACACCGAAATCCTGTTTGAAGGCACAGATTCTCCATCTAGAGAGAAGCTCAGAATTTGCAGAGAAGTGCTCTTTCAGCGTGCTCCTTTATGAAGCCCAGATCCCATATGTTGTTTGTAAATAAAAGAGAACGGGTTTTGTGTGTGTGTTTTCTTTTCTTTTTTCTTTGAGACCAGGTCTTGCTTTGTCACTCAGGTTAGAGTGCAGTGGCACAATCACAGCTCACTGCAGTCTTGTCTTCCTGGACTCAAGCGATCCTCCCATGTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCACCATGTATCACTAATTTTTAAAAGATTTTTATTAAAGACAATGTCTTTAATAAAACTGCCCAGGCTGCCCAGGCTGGTGTCAAACTCCTGGCCTCAAGCATTCTGACCACCTTGGCCTCCCAAAGTGTTGAGATTACAGGCACGAGCCACTGCAGCCAGCCCCATAAAAGAAAAAGTTTTGTTGTTATTTTTCTAACCTGTACAATTTGTATTGACATCACATTGGTGAAGACTAAGGTGTGGGGTAACTGGATATTCTTATTTTGGGTGGAGAATCTCTGTCTTAATTTTTCATGACTATTTGTACCTCATTCTTGAATCTATCTCTAGTTTCAGGGAGCAATATGGGAAGGACAATTCACTGGACTATGTGACACCATTGGCAGCATTTTGTCCTGAAGGTCCAGAGTGTTTAAATCAAATACAGTTACAATGATGATGCTATTTAATCTTTTGTGTATCCTTGGAAAAATATAGTTAATATGCTATATCTAACAGTGAAAATTATATTAATAAAAAATAACCTGTGACTATATACTTTATTTATTTATATTTTAGAGACAAGGTATTGCTCTGCCATCCAGGCTGGAGAGCAGTGGTGTGATCATAGCTCACTGCAGCGTCGAACTCCTGGGCTCAAGGGATCCTCCCTCCTCAGCCTCCTGAGTAGCTGGGAATACAGGCGCACACCACCAATGCCACTAACTCTTTTTTGTTTTTCATACAGATGAGGTCTCACTGTGTTGCCCAAGCCAGTCTAAAACTCCTGACCTCAAGCCGTCCTCCTACCTTGGCTTCCCAAACTGCTGGGATTACAGGCACGAGCCACCATGCCTAGTTTATACCTTATTTTTTTAATTGACAAAACAAAACACAAAATTTGTCTTAGCTTATGGTTCATTGATTATTTAAATCTATAGTATTCTATTTCTTAAGAAAATAAATACTGATCATTATATAATGACTGAGTTTTTTTACATTATTATTTTTTGTGCTGATTCTCCAAACAAAAATGATTATTGTTAATTTATAATAAGGACTGTTTTTTGGTAATCATTATTCCTCATTGTGCCATTTTTTGGAGCTATTCTCTAAGAGTCCATTAGGTATACTGAGGGACCTAATGAACAATTTTAGGGCAGCAATATCCTCCTACCTGCCCTCACAAGAGCTAGCTCTGAAAAAACAGGTGCAGATAGCAAAACTGATAACTATTCACAAAACCAGAAATGTCTAAGGAATCATACTTTCTAAATTTGCTTGCTTGTACTTGTTGCTGGTCTAAAAGCAATTCATGAAACTATTCCAAAGAGGAAAAACATGATAGATTTACATTAATATTTCCTAATTCAGGAAATGGATCTCATCAGACAAAATAATTCCAAAGAGACCACAGGGCCACATAAACCCAAAGTCTGTTATCCTTTAAGATCTCACATTCATGAATTCATTCAACAAACCTTGAGTAAACAACTGCTATTTGTTCGGGGGCTTGAGGTACGGAGATGAAGAAGACAAAATCTCCAATCTCAGGACACTCTTATTTTGCTTCAGAAGGTAGACGAGTTTGATTTAGATCACAGCTTATGATTTCTATCTCCCTTAAAATAAATTACTATGATGCATTTAATTGTAACTAAATAAACAAGCCATCAGAGTTTAACGCATTTATACAAAAGCAAAAATCAGATCTGACAAAACGTGCTAGAAATCACACCAAAGTTTAAACACCTACTTTTCCTCATGGAAGTGTCAGTTTTGAGGAAAATACACTTTTTGTTTTATAGGTCATCCTAATGATTTGTACCTTGAGACTGGCACTGCTGATCATCAGAGAACCCAGCTGGTGTCTCAGGCTCGTGAACTTTCTGTTTTTATTTTTTATTCTAG
Seq C2 exon
TGAGCCCTCAACCTGCCTGCAATACCAGCTCCTTCAGGCAGCATGGCCCTCTCATCTGTGATGGCTTCAGGGACTGTGAGAATGGCCGGGATGAGCAAAACTGCACTCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000176040:ENST00000419127:10
Average complexity
IR
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:
PF0005713=Ldl_recept_a=FE(76.6=100)
A:
NA
C2:
PF0005713=Ldl_recept_a=PD(19.1=23.7),PF0005713=Ldl_recept_a=WD(100=55.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains