Special

HsaINT0106306 @ hg38

Intron Retention

Gene
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:HGNC:7454]
Coordinates
chr8:17302154-17304519:-
Coord C1 exon
chr8:17304379-17304519
Coord A exon
chr8:17302281-17304378
Coord C2 exon
chr8:17302154-17302280
Length
2098 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGT
5' ss Score
7.44
3' ss Seq
CGCTTTGCCATCCTTTCCAGGTT
3' ss Score
10.58
Exon sequences
Seq C1 exon
GATTCAAGAAAGAACATACTCATTATGGGCTCACCTGTGGAAGAATCGGGCCGACTACCTGAATCCTCTGTTTAGAGCTGATCACAGCCAGACTCAGGGAACCCTTCATCTCCCTACAACACCATGTAACTTCATGTACAA
Seq A exon
GTATGTAAATCCTTGGTAACTTTGTAGCCATGGTATGAACTTGGATTCTGGTACCGTTTAACATTCAGAGGTCAAAGTGTATGACACTGATCTTTGAGGCTTTTATTGGACACAAAAGACACCAGAGGGAGATGCTTGAATATCTGATCTGGTATTTTTGCCAGTGACTCCTCTGCCTCTTTATTCCTCCTAAATGTGGAATTTTCTTCAGGAGGTGATGTTTTATAATAATGATATCATAAAAAGGTTAAGTTCCAATTTATTTTTTTAAAAGCAAATGAAAGAGAATAATGCAAATGCCTTAAGTCAAATGTGGAATCACAAGTTTCAACAGTGATCATGACGTGTTAAGGTTGGAGCAAAAATAATTGTGGTTTTTGCCGTTATACAACAAAAAGGCAAAAACCGCAATTACTTTTGCACCAACGTAATAGGTTGCCTTTTTGTCTCCACTGAATTAAGTCCTACTGGAAGTACTTCCCTTGTGGAAATTACATTAAGATTGTATGTATTAGCCGAGGCGGGTGGATCACCCTAGGTCAGGAGTTCAAGACAAGCCTGGCCAACATGGGGAGACCCAGTCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGTGAGCGCCTGTAATCCTAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCAGGGAGGAGGAGGTTGCGGTGAGCCGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGATTGTATGTATGGGGAGAATGGGGAGAGCAGGGTGGCATCCTACAAGTTCTACTAGGTATGTGCTAGATACGTATGTTTTTTCCTTTGGCTTCCTTGTTAGGCTTGTATAATATGAAAAAACTCAAAGGTCAGCAACATCAAAAGACTCATGCAGAATAAACAGAAACCCCATCTCTTTCTTCCTACTCACTCCCGACACAGACTTGATGGCTTTTCTCCCTGTATAGATTTCGTTTCTCAAGGTTTTTTTTCTTAATTATTTCAATCTAATTATCTTCTCAGAATTTATAGCAGAATATTCTATCATACTAAACAAAAGCCTCCATAGTGCATGTAAGACAAGTTTTAAGAGCTGTTGAGATATGACCAGTTGGATTGCAACTAATTTATTATTAACAGCTAGTCAACACATATTTTATTGAGGATCAAACACTGTTCTGGGCACTGCAGATAAAACAATGACACCAAGTCCTTGCCCTCAAAGTACTTACTTATCTACATAAATAAAATAGTGGTTCTAAGGGTAACTCTGTGATAACACCATTTTTCTCATTTGCACTCCAGTTGCTTTTTTGTGTAGGATAAAAAGGGATTTATTGGTCAGGCGTGGTGGCTCCCGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCATGACCAACCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAAAAATATAAAATTAGGCATGGTGGTGCATGCCTGTAATCCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAAGGAGCCGATATCACACCACTGCACTTCGGTTTGGGTGACAAGAGCGAAACTCTGCCATTAAAAAAAAAAGCGGGGGGGGGGGGGTTATTGCCAATGCAAATGTCAACTTTTAGTGGTCGTGATACAAAAGATAAAAGCTGCAAGTTTAAGATTCCCTTTGTAGCTGAAAGATTCTAAATATACAATTTCAAAGTTCAAAACTAAGAGCCATTTTCTTAAAAGGTAATGGTTACATGTACTATTTTAATTTTAGAAAAATGTATTCTGTGCTAATTCATATATACAGGCAGACTTTTCATAAACTTATTCTCCCCAAAAGGCATTTACTGACCCAAGAAAAAAAACATCAACATGAAATTATTACCTTAAGTAGTGGCTTTTTTGAGGCTGAAATTTGCATTTGGTTATTATTAAGACTGTGGTATCATAGATACCTTAGAAGACTTGAGGATGTGAATTTTCAGACTGTGATAAGGTGGTATCACGACGCTTTGCCATCCTTTCCAG
Seq C2 exon
GTTTTGGAGTGGAATGTATAACCGCTTTGAAAAGGGGATGCAGCCCCGACAGTCAGTTACAGATTACCTAATGGCAGTGAAGGAAGAAACTCAGCAGCTAGAGGAAGAACTAGAGGCCCTGGAAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000003987:ENST00000180173:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.010 A=NA C2=0.241
Domain overlap (PFAM):

C1:
PF093326=Mcm10=PU(7.9=22.9)
A:
NA
C2:
PF093326=Mcm10=FE(30.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
LOW PSI
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
  • Pre-implantation embryo development