Special

HsaINT0106306 @ hg19

Intron Retention

Gene
Description
myotubularin related protein 7 [Source:HGNC Symbol;Acc:7454]
Coordinates
chr8:17159663-17162028:-
Coord C1 exon
chr8:17161888-17162028
Coord A exon
chr8:17159790-17161887
Coord C2 exon
chr8:17159663-17159789
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-MTMR7:NM_004686:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.014 A=NA C2=0.285
Domain overlap (PFAM):

C1:
PF153901=DUF4613=FE(27.5=100),PF061568=DUF972=PU(3.4=6.2),PF093326=Mcm10=PU(7.7=22.9)
A:
NA
C2:
PF153901=DUF4613=FE(24.6=100),PF061568=DUF972=FE(48.3=100),PF093326=Mcm10=FE(29.6=100),PF039618=DUF342=PU(37.2=74.4)


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