Special

HsaINT0101844 @ hg38

Intron Retention

Gene
Description
multiple EGF like domains 6 [Source:HGNC Symbol;Acc:HGNC:3232]
Coordinates
chr1:3515402-3524246:-
Coord C1 exon
chr1:3524124-3524246
Coord A exon
chr1:3515528-3524123
Coord C2 exon
chr1:3515402-3515527
Length
8596 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
GGTCCTCCCTGTGTCCCCAGCCA
3' ss Score
8.06
Exon sequences
Seq C1 exon
ATGTGGACGAATGCCGAACCCACAACGGTGGCTGCCAGCACCGGTGCGTGAACACCCCAGGCTCCTACCTCTGTGAGTGCAAGCCCGGCTTCCGGCTCCACACTGACAGCAGGACCTGCCTGG
Seq A exon
GTGAGTGTCGCCTGGAGACCCTGCCTGGGCTCCTGGCTTCAGCCATCCCTACCCTCTGGGGTGTGCCCAGGCCTGGCCTGAGAGGGTGGCTGTGGACATGGAGAGGCAGAGGCCGCTCTGGCAGTGGCTCCTTCCTGCGGAGCATGGCTCTATGGAATCCTGCCCGCACCTTGCCCCAGGCTCAGGCCGGTAAAAGGACTGAATGCCAAGTTGCCAGGTCCCCAGGACCCTGGCTGCAGACCCTCTGCAGCCACACTAAGCCCCGCTGTGATGCTGAGGCCCCTCCCAGTGGACAGGGGAGTGAGCCCGTGGGTGGAGATCCTATTAAAGATTCTCTACAACAGAAGCTGCCGTGGTTATCAGCAGGGACCTGGCCTGGTTGTGATGTCCCCTACATTTGATTTGAGGGAGACCTGGGTCACGTGCTACGTGGTGGGGGACGCTGGCCGAGGAGGCCTGGTCAGGGCAGGGGCTGCGTGAGGACACCCTTCGCCCGCAGAGCCAGGCTTTGTGGGCCCAGGTGATCCCTGCCCAGCTTGGGGAGCCTGGAGGGTGTGGGCTGTGGCAGGTAGGGTAGGGGTGACGAAGAAGCGGGACCCTGTCCCTCAGCTTCCTCTGCGGGGTCTCTTGGCTATTGGAATGGGCTGGAGGAGGTGTCGCGGACACGGACTGTGGCCGCAGGGAGGGAGGGTTAGAGGGAAGCAGGGGAGGTGCCAGGCCTCTAGGAACCGGCACAGGGCTGAGCAGGGGGCTGGAGCCCAGGAATCTGGGGTGAAGAGTAAGTAGCCAGTCAGCCACCCTCACCCTTCGGCACCCCTGCTCCTGGCTGGCTCTGGGCACAGGCGCCCCAAGCAAGGACGGGACTGACCCTCTTGCTGGTCTCTGTCTGGGAGGCATGGGGGGTCATTCTCTGGGTGATGGGCGTCAGGACGCCCCTTCTTCCTGCCTTGGAGGCCCGGAGCAGGGCCCAAGCCGGCTCTGAGCAGCCTCCCTCCCGGTCCTGCCTGTGATGTGGCAGAGCAGCTCGCCAGCCCTGGGGCCCCCCCCCCGGCACACACTCACATGTCCCGGCCACCATGGGGATCCAGGCAGCCGCTCTGTAAAGTTTCCCTGGGTCTGAAAGTAGAAACAGATGCAGGAATGTTGTGATGTGCTTCCGGACAACGGAGACGGGGGTGCGGCCCCAGCCCGCTGCCCTGCGGGGCTTCTGGGAGCCTGGGGCACTTTAGCCTTGCACCCCCTGGTCCCCTCAGGCCCCCTGGAAGAGGCAGCTCTTGGGGGGCACGTCCTTTTCTCGACCCTCCTCTCAGGCAGGGTATTCCTTGTAGAAGGGCAGCCCAGGTGTCAGCCCAGTGGGGCCTCTCCTGGCCTCTAATCCCTTCTCCTGGCCTCCTACTGTGAGTGGGGGGGCCTTGGGACACTCACTCTCCTAGGCTTTGTTTCACCATCTGTGTGATGGTGACCTTCCCTGAAACCCTCAAAAGGGACAAGGACCACCCCACCCACCACAACCCACTGCCCACCCACCCATCACTCACCCGGCTGGAGTCTCCTCCTATAGCCGGGCCTTCTGGGATTTGCCTCCCAGGAGGCCGTCCTGGGGATGTCTGCACACTTAGGGCCCCAGAAGGCTTAATCTGCGGTGCTCGCCCATTTTAAAGGTCTTCTCCGGGCCAGATGCCAGGGCCCCTGGGCAGGGCCTGCACAGCCTGGCAGGAGGCTCCTGGGACCTCGGGGCCCCTCTGGCTGTCACCCCCTCAGGGTGTCGCCTGTGTGAGTGGTGGGCTCCCGGTGCCTCCACAGCCTTCTCCAGGGCTGGTGCCCGGCTCCTGGCTTCCTCACCCCATGGAGGGCCCAGGTGAGACTCTCGCCTGCGTGCCAGCCTGTCACCTAAGTGCGTTCACCTACTCAGGGGTCTGCTGGATGCAGAGCAGTGACCTCGGAGCGCACCTTCTCTTTCACTTGACTGAGGCTCCCAGCAAGGCCTTTACGCTGAAGCTTCAGGAAATACAGCCCCGGAGCTGTGATGTGTCTGTTTCGCCACAGAAGATGCTGGGGGTTTCACCCCCTGGGAACAGGTGGTGACCCTCGCTTTGGCAACAAGAGTGACTTGGGTCCCACTAGCCTTTGGCTAGTTGAGTTGGAGAAATGCCTTCCTCTCCCTGAAGTCCCTGGTGGTGGCCTGGCGACCCCTGGCCTGGGAACACGTGAGGACTAGCCCCATTTCTAGGCCACCCTGCTTGGGCACCATCCAGACCCCCTTCCTGGCACTCTCTGGGGCATGTTGTCCCCCCTTGTCCCTTGCCCATGGTGGCCTCTGTGTGCGAGCTGTGCGTGGGGGATACCAGATGGCGAGTTCCTGGGAGCTGACACCTGCAAGGGTGGGGCCGGTTCCTCGGTCTCCCGGGAGTTTCCAGGATAGGCATGGGTTTGTCAGCCTGGGCCCAGCGGGAGCTGCTCTCTGTGGGGGCCTGAAAAGCTTGTAGACCGGGGACGGAGTCCCCTGGGGGCCACCTCCCAGGCAAAGCCAGGCGTGTTTGTTTGAGGGGTGCCTCACCGTCTCAAGCCGCTTCTTGTTGCTGAGGGACCCAGCCAGACTGTGGGCCTGAGACGCCGGCCTGGGATGGGGAGGGTGTTGGGGCATCTCAGCTCCTGGCCAAGGGCTGCCCTGTGGGGGGTCTCCTGCGGCAGCTCGGCCTGGGCCTGTTAGAGGGCACTGCCCACCCAGTCCGTTCCAGGCTGCCTGGACTCTATGAGGGCTTGATGGGGATAGGGCTGGATTTCTGGCCCCTGGGGAGTTTGGGACCCTTCGCCCTCCACTGCCTTACCTTCCTGCCTCAGTGTGGGGGCATCTTCTGGTTCACACTGGCACCCTCTGCCCAGGCCTCGGTCCTCAGGAGTGGCCTCTCCCACCCCCATGGGCCAGTTGAGGGCGGGCTGCTCAGCGGGAACCTGGGGCTGCCGTGGAGCCCCTCCCCCAGGCCTGCCAGGGTCCTCCTGGCCGGGAGGGTGTCGTGACCCCGCCTGGGGCTTTGCAGGGGGACAAGGAACATGCCCCCACGGGCTTGAGGCTCTGCGGTTAGACTCCCCACTAGCAGCTTGGAGTGAGGCTTGCAGAGAGGCTGGTGGAGAAGCTGCCTAAAAATCCACCCTTCCTTCCCCAGCATGGGGCCAGAGCTCTCAGGGGGCTGACACCTCCAGGGCCCGGAGCAATCTGGGAAGGCCCCAGAGGAGGCTGCACCTGAGGGGGGCCTTAAAACACTCCAGAGGGGCCTTGAAACGTACTTGAACTTGTCTCTGAGGCAGAGAGAGGCCAGGAAAGGTACAACCTCCACACCTCCCTGCCTTCTAGATTATCTTATGGAAATCAGACACCAAAAGGGTTCCCCTCTCAAAAGCGAGAATCTACAAGAAGGACTTTGCCAGTGGCTCCCACACTGTGAGAGTGTGGGTCCCCGTTCCCCAGCCCTGCCCGCCCAGTCCTGGTGTGCCCCATTGCCCTGGCCGCCGAGTCCTGGTGTGCCCCATTGCCCCGGCCGCTCAGTCCTGGTGTGCCCCATTGCCCAGGGCGCCCGGTCTCTGGGGTGGGAAGAGCAGGGCCTAGTGAGGCCCGAGGGTGGGGCCAAGCCTGCTTCTCATTCTCAGCCCCTAAACCTGAGCCCGCCCTTGCCTTCCCCGGTGATGTAGGGAGCAGTGGTCTGGCCCGAGTGTCTGGGGGCATCATTCTTGGTTTTCCGTGACACCCTGCAGAGTGCCAGCGTGCAACACTCAGAGAGGAGAGCAGCTCCCATGTGGTCTAGCACTGCGCTGGAGGCCTCCGCCTCTGTGTACCTGGGCTGCTCTGAGCCAGCATGATGCCCGCGCATGACCCCGGAGGCGGCCTGGCTGACTCTGGACCCTAGCCTTGGACATGGCTGTTCCCTCATGTGCCTTGGGTTGAGCAGCACTCCTGGGCCCTGTCTGAGGGCCACAGATGTCACTGGCTTTACCAGCAGAGGTCCCTCCAGATGAAACACGCTGTGCCACCCCAGGGAAGAGGTGGGCCCGCTGTCCTTCTCCCCTTCTCGGCCCATGCCCATCAGGCCTTTGGGATGGACACTGTTGGAGAGGGGACTCTGTTGTCACACCCTGGTGGCCTGGCCATCCCCTCCCTGTGTCCCCCAGAGTTGGATGGACTCATGTGCACACGGCTGGGGGTGGCCTCCCAGCCCTGCCTCCCCACCTGGCTCTGCCATGGGTGTGCTGTGTGCCCTGGGGCAGACTCTTCCCTACCCAGGCCTGGGTCTCCCCATCACAGCAGTGAGAGGCTGCATAGACCCCCTCCCCTGGCCCCTTGGTTCCTTCTTGGAGGGGAGGCCCGGCCCGGGAGGGGAGGCTGCTGGCAGGCCGTTGGCTTGTGCTGAAGGGTCAGGGCTGGCCGCCTTGCTGCCCTCTGACCGCCGCCTGGTGTGCTGGAGCCGGGCACTGCGTAGGCAGTGGGTTGCTGCCCTGTCGATATAGACCAGGCCTGCCCTCCCGGGACTCTGGTGACAAGTAAGGCGCCTTCCTAAACGCTCTGGAGAAGCTGAACCCGTGTGATGCTCACGCAGCCCTGGGTCGGGGCCTCCCCCAGGAGGGCAGGTCGGAGCTGACGCTCAGCAGCGAGTAGGCGCGTGTGGCGGTGCAAGCACTGCGGGCATTGGGTGCCCATGGTGCGCCGTGCAGCTCCCACCTGGGAGTGCCCCTGTTGGCCCCCGCCGTCTGGCCTCCTTCATTCCATGTGTGTGGTCCAGCTGCTGCCTGCCACTCCCTAAAGCACACGGTGCCCCTGGTAGGCCAATAGGGCACTGCTAGCACTTGTCTATAGGGACCCACCTGTCACCTTGGCCAGTGGGTCTGGACCACTGCAGCCAAGCATGGGCCGAGCTGACCACCCAGAAAGGCGGGCGCTGGGCAGGATGATCTGGCCCTGGCCAGGGGTGGGGGCCTTGCTGGGGTGTGGGTTGTGGGGTCAGCTTAGCCTGGTCCATGGAAGGGGGGTGGCGGGCGTTTCCCTCCCTGCTCCATTTCTGGACGCCTGGTGGCCATGCTGAAGGGCCATTGTTTGCCTGGTGCTCTGTGTTGTTGGGGTGACATCATGGGCTCAGACCCCTTGGCGTGTGGACGAGGACAGCTGCTCTCACAGGCTGTGAGTCAGTAGTGCCCCTGTGCAACAAGGAGGCCCCATTGAGAGGGCAGGGGATGGGGGCAGGTGTACAGGGCAGGCCCGCCTGGAGGGGAGCTGGGGGATGAACACGCACCCCAGCCTGCCATCCTGGCCCTGTCCCCAACAGAGGGCTTCCTAGAAGGCAGGGCTGTGGGTGACTACTGACCACACGTGGCAGGAGACTCAAGATCTAGAAACCATCCCTATCTGAGGGCAGTAATTACAAGCCTCGTGAAACCAGCAGGGACCAGAACCAGAAACCAACGGGACCAGAACCACCCTGTAGAGCTGGCCTGGAAACCACTGGGCTGGGTTTGGAGGCTTGGGCAGAGGAGCTGGTGGGCCTGTGTCCAGCCCCTGCCTCGGCGCAGCCCGCCAGTCAGCCAACGAGCTCAGAGGCTGGGCCTGGCCGCTGATGCCCCACCCTCCACTCCCTCCGCCGCCCAGGATGCTGCGCCTCGAGCAGAGACCAAGGCAGCTCAGACGGAAGGAGGCCCCTTTACCTTTGCAGAGCTTCACCCTCACATTTGGCAGAATCCTGGGTGGTGCCGCCTCCTGCTGGCAGAGGTTGGAATTGCACCCCAGCCCGAGTGGACCTGCATGTGGCTGGGCTGGAGTGATGTCTCCTAGAATTGGCAAACTGGGGAGTTAGGGTGACCCAGGCAGCTCTGGCTGCCATAATGAAGAGAGTGCTCTGTGTCTCTTCCTACAAGGACATGAATCCTACCTGGTCAGGGCCCCACCCTCTTCCCTCTCAGAGACCCTATCTCCAAATACATTCACCTTGGAGATTAAGGCTCCAACACAGGATTTTTTAGGGGGGACACATTCCATTCATAACAGAGTGTCCCCCAACAACAGTCAGTTGCATCTGATCTGGAAGTGGACAAGGACCAAAGTTAGGCCTTGGCAGAACAAGACTCCAGAGTCAGGAAGGGGCAGAAATGTCGGGCCGGATTGCGGAAGCACGCGGTGCGATTATGCATGCTGACCATCAAACCCCCACTGGGTGGGGATTTTTTCCTTTGAGAAAACACCACTTCAGTATTAAAGAAGTGAAAGACACAGTAGGGCTTGCTGTCGAGCCCGCATCTGTCCGCAGGTGAGCCAGGTGAGGGCTGTGGAGCACAGACAGGGAGGGTCTTCCCCCACTGGGAGGCAAATCCCCAGTCCACGTCTGATGGGCACACTCAGCTTTGCCGGGTCTGAGCTTGGTCCACTTTGCAGGCTGTAACAGGTGTGAGCCTTTGGCTGTGGCCTGGGTAGGGGTGGCTGGGCTGTGTGTTTTGCAGCTGGGTCTCAGTGTCCCGAGGGGTCTGGACACATCCCTAGCAGTGCTGGGCACTGGCCACGCAGGGGTGGCCCCTCCTGAGCTGCATATCCCAGCGCTGGCGAAAATCTGCCTGGTTCAGCTTTCCGGGAATCCGTGGCACAGGATATATGCGACGACACTGGGCTTGGCTCCCGGCTGCGCACAGCTTGGGAGCATCTGGGGTGTTAGAACTGTGTGGACTGGAGTGGCAAGAGGACAGGCTCTGGGGGGATCCCTGCCTCTGATCCCCCCGCCCTGGTGGGCTCCAGTGCGCGCCATGCCCGGTGGTCCCTGGGTGCGTCTCAGGGCTCTGCCTGTCTGGAGGGGGTGATGAGAAGCCTCTTTCTTTCCCAGCCCTGCCGCAGCCTCCTGGGCCCTTGTGGCGCCTGGATCCTGACGGCCCAGCTTCCCTGCCATGGGCTCTGTGCCCCCTGTGCCTGCCTGGCCCTGCCAGGAGGGGGTCTGTTTCCTATTACGTGTTCCAGACAGGGGTGCTGTTGCTGCGGTGAACACAATAAACAGGGCCCCTGGGAAGGCGGGGCCGGCGCAGGCCATGCTCAGAGGCCCCTGGAGCCACGGTAGTGGCTTCAGCAGGGCCATCTCAGGTGAGGCAGGCCGGGCCTGGGGGCCAGGACAGCTCCCATCTTGTCTGGGCAGTTAGGTGGATGGGGCGAGGGGCTCAGAGGCAGACGGGCTTACCTGAGTTCTGCCCTGGGTTCCCCACAGCCTGCACGTGCCAGGGACACGTGGGGCAGGAGACAGAGCCATCACTGCGACCCCCAATAGCCTCCCAAGGCTGGCTCTGCCCCAGGAGGGGACCCTCAGCGCCTGCTCCCCTGTGGGACAGGTACGGCGAGCACGGTGGGTTTTTAAGCCAGCTTGCTCTGAGGGGGCTTTGCCTTCTCAGGGCCCAGAGGCAACACCGCTGCTCCAGCCGCTGCCTGCTCTGTTGACCTCTGACCGCCCTCCCCTCCATGGTGCCGGGCTTCCCATCCGCTATGCAGCAACAGTAGACGGGTTCCCCAGACTCGGCCCCAGGCCCAGGCACCTCCCAGGGATGGTGGCAGTCCCCCAGGAGGTGCCCCAGAGGAGGCGGCATCTCAAAGAAGCCTCCCCACTCTGAGAGAGTCTCGGCGCTTTGGTAATGGGGTTTGGGATTGCTCTGGGCACAGGCCTGGGCAGACGGCCTCCCCTGCCCGGGCACAGGCAACAGCACATTCTTGCGGCTTCCCTCTGAGCTCGGGGCTGACTCCCTCCCTAACCACAAGGCAACTGCCAGACTTGACAGTAACCAAACCCCCGCTGAGGGGCTGGCTACCGCTTTTGGCAGAGGTCCAGTGCCCACCCTGGGTGCCCAGCCTGGCCCAGCGCCCTGTCCCCGCCTCCCTGCGCCAGCTCAGGGCACAGCCCCATCCATCCACGGGGTACAGGCACCCACTGGGCCAACCTGACCCCACAGTCCATGCTCTGCAGGAATGTGCATGAAGGAATGGGGGCATGGGCAATGCGTGGGGACAGGCGTGAGGTGTGGCCTGGCCTGGGGTGGGTAGGAGCTGTGCTGGTCCCTTGGGAACTGGGGGCCAAGCCTGTGGCCCATGGCAGCTGTCCACGGCATCCCCACATCTGCCCCCACCCTGGCCTAAGGACCACGATGGTGAGATGCCTGGGTCTCAGTCACCCCCTGCCAGCCTGCGTCCTCCTCCAGGGAGATGCAGCCTGCTGGGGCACTGAGCCCTCGCTTGCAGCTTCTCAGAGACCCCTGGTGCTTAGTGTTCTGTGCTGGGGGGTGCTGGGCTTCTGTCTGGGTGGGGTCCCCTTCTGTGTCCAGCCCTCGATCAGGCCGGGGCCGGAGGATCCAGTGAATCCCCCACAGGCCTGAGGATCCTGTAGGCAGCAGAGAAGGCAAAACCAGGCCTGTGAGCCGGGCAGGGAGCAGCGTGTGACGATGGAGATGAAAAGGCGGAGGGGCTCGGAGTGGCTGGGAGGGGTCCTACAGCAGGAAGAAGTGGCCATGCCACTCCCTGCTCCATGCCAGCCAGGGACAGACTGTCGGCCAGGCATCCTCTTGGGCTGACTTGGGGTCCTCCCTGTGTCCCCAG
Seq C2 exon
CCATTAACTCCTGCGCCCTGGGCAATGGCGGCTGCCAGCACCACTGTGTCCAGCTCACAATCACTCGGCATCGCTGCCAGTGCCGGCCCGGGTTCCAGCTCCAGGAGGACGGCAGGCATTGTGTCC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162591:ENST00000294599:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.062 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF146701=FXa_inhibition=WD(100=85.7)
A:
NA
C2:
PF146701=FXa_inhibition=WD(100=86.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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