Special

HsaINT0052372 @ hg19

Intron Retention

Gene
ENSG00000177103 | DSCAML1
Description
Down syndrome cell adhesion molecule like 1 [Source:HGNC Symbol;Acc:14656]
Coordinates
chr11:117395520-117403237:-
Coord C1 exon
chr11:117403091-117403237
Coord A exon
chr11:117395799-117403090
Coord C2 exon
chr11:117395520-117395798
Length
7292 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
3' ss Seq
CGACCCTCTCTGCCTTCCAGACC
3' ss Score
9.74
Exon sequences
Seq C1 exon
AACACAGGTTTTTTATTACCTACCACGGCGGGCTGTACATCTCTGACGTACAGAAGGAGGACGCCCTCTCCACCTATCGCTGCATCACCAAGCACAAGTATAGCGGGGAGACCCGGCAGAGCAATGGGGCACGCCTCTCTGTGACAG
Seq A exon
GTAGGGGAGAGGGCCTGGGGAGAACGGGGCAGGCTGGGAAGGGAGGACACCAGGCCATCCCTGGAACTTGGCACGCCCCACCGCAGATGGAGGAGCCCCCTGTGTACTCAGGGAAATCAGAGAAAGAGATTAAAGAAATCAGGTACTGAAACCACCAAGGAAGACCTCTTTGCTATGTTTTCATTTTCAAATAATGAGGCTACGAGACTCACCCTCTTTTTCCCTTTTTTTTCCTTTTTTTTTTGTCTTTCCTGTCAGGAAGCTGATAGATAAAATCTGATACTCAAACATAGTAACTATTAGTGTTGCTTTTGCTGGGGGTGGGGGGATTGCATTTCCATGCCTCTAGGTGCTTGTGAGTATTCTATCCTTTCTTTCTTTTCTTTTCCTTTCTTTCTTTATTTCGTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCTCCCTTCCCTTCCCTTTCCTTCCCTTCCCTTTCTTTCTTTTTCCTGAGACGGAGTTTCTCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTTGGCTAACTGTAACTTCCGCCCCCTGGGTTCAAGCAATTCTCCTGCCTCAACCTCCTGAGCAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTTTTGTGTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTAGGCCGGTCTTGAACTCCTGACCTCAGGTGAGCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTGCAGGTATGTGCCACTGCGCCCGGCCTGAGGATTCTATCTGATCAATGAGTACATATGTATCTTTTGTCATAGGCCACCTCGCAACATTTGAAAGCAGGCAGAACATAATTTATAAACAAAATATTTCTAAACAGAATAGAGGATTCTTCTTTTGGGGTGATTATAGCTTCTCGGGAGGGATAGAAACTGGTGTTTATTGAATCCTCCTGTGTATCTGGGATTCCCTCATTTGTTTCTGTCAGGGACCGTCATAGCCCTGTGAGGTGTGTGCTGTTTCCCCTATTTTTACAGGCGAGAAAACCAAATCTTAGGGAAGCCAAGCGACTTGCCAGAGCTATTTAACCAGTGGGAGGCACAGCCAGAATTCAAACTCTGAACCCCTGGCCTCGGTGTCCTTCCAGCTACAGGACCCCATAGAAGGGGTCAGTTGAATGCCCATACCCATGCTGAGGTCACAGAGAGGCGCTCCTCGAGGTAGGCTTTCTGAACAGTGGTTTCCAAACTCTTTGACCACAATGCCCAGACAGACGTTCTTATCACAGCCTGCGCGATGCACACTGGCATTTTCTACCATGCTCGTTGCAAGGCGCTCTGGAATTTTCTATTCTATTCTATCTAATTCTGATTTCTCTAAATGCTGGCCACAACTCACCAAATGGATTTCACAACCTCCTAAAAGTTTGCGGGTTGCGAGTTGAAAATCTCTGTCTTGAGATTGGAGTTTTTGGAACGGGGATGAACGCTAAGTCAGAACACCCGGCTTTTGGGATTAGACTCATGAAATCTCGCAGCCTCTCTAGGCCTCTGGAAAAGGAACCAGTCTAGGTGGCTGCTCTGATTCTGTGTGCCTCTGCCGCTCAGAGCTCTGCCCTGAGTTTGGTGGTTTGGTGATGAGCTCTGCCCTGACCCACAGAGACTCTCTCCAGGACCACTTCCACTTGTCTGTCACATGTGGGGCAAGGCCAGGAGATCAGGAGCTGGGAGGGCAACAACCCGGCTCCCGATTCACCCCTGTGTCTTCAGCGCCTGGCCCTGTGCCTAACACACACGAGGTGCCGAGTAAATATTTATGGCATTAATCAATGCCGAGGGAAACCGTGCTGTCATAAGAGTAGGGGACGGGGCTGCTCCGTGCAGCCCCATCTTTGTGGCTTGACTTTGGAATCTGCAGCCCAATTTCCAAAGGGCTCGCCTCAAAATGACGGGGACTTGTGTGTATGGTGTTTTGCATCTCATTTGCATGCTTATCCTGCAATGTGGGAAAGACACAGAAATCCCCTTCCTGCAGGCCTGCTCCCTTCTCCTCCGTGAATATTTGGCCCCTTCATCCTCTAGTCTCCTGGGTGGACCTCTAGCTTTTGGGGGCACTAGGCAAGAGTCCCTCAAAAAGAGACATTCTTTGAACTGGAGGCCATGCCAGCCCTTCTTCCCCTCCTCTTTCACCACCAGCTTCCGGGAGAAGGGGCGAGGGGGAGGAGACTCACAGATAAAGCCCAAATAGAAAAGCGGGCATGAAGATGGGACGGTACCGACAGACAAGAGAGAGGCCCCGGCACAAAGAGAGATTGGCATGGGGCACAGGAAAGGCAGAACGGAGGGACATGCACAGAGACAAAGGAAGCGAGCGACGGGGCTCCAGGGAGGGGGCACATGCAGCGACGCGGGGCCCTGATGTGATGGGATGTGACAAGGCGATCTGCAAGCTGCTTGTCTCGGCAAAAATGCAACTGATACTGGAGCAAGCAGTGCCGAGGGGGTTGGCACTGTGTGGAGCCCAGAGCCCGTCTCAGGCTCACCCGCCCCTCCCCATTGCACTTGGGTTCCACTCCCCAGAGCTGAGGGTGGAGATCAGTCCCCACAGAGAGGCAGGCACGAGTGTCCGCTGAGATGTTTCAGTCTCTAGAGGCCAGGACCCCCGAGAGCTCCTGGGGCTTGTTGCGGATGAGAATGGCACAAATGGCAGTGCATTGGAGGTGGTCAGTTCATGAGAACAGGAAGCACATTTGTGGTCTCTTCAGCACTCAGGGCTAAAGTTGCTGGGGGTGGGGAGAGATAACGAGGTGTATTATTAAGATGGCAGTTATGAATTAGGCCAAACTTTCCATCTCCGCCTCAACACTCACTAGTTGTGCAGCCTGGCATAAAATAATGTTCCAAACCTCAGCTGCCTCATCCGGAAAATGGGAGTAACAAAATGTACTCCTGCTGGGTTGCCATGAGAATGAAACAGAATATCTCCTATTAAGAAAGGCCAGGCGTGGTGATTCAGGCCTGTAATCCTAGCACTTTGGGAGGCCAAAGCAGGTGGCTCACTTGAGGACAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTTTACTAAAAATACAAACGTTAGCCGAGTGTGGTGGCACATACCTGTAATCCCAGCTACTCGGGAGGCGGAGGCAAAGAATCGCTTGAACCAGGGAGGCAGAGGTTGCAGTGAACCGAGAACGCGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCCAAAATAAATAAATAAATAAATACCGCCTATAAAAAGCTTAGCTAGTGCCTGACACAGGAAGCTCTGGACAGACAGTAGCTGCTACTATTATTGTCAGTGGTGGTTGTTCTGCTGTTGCTACATTGTTATTCCTACTACATTCCCAAGGGGGGGGGCGGGGGGCGGCAACTTTCATTTTTCTGTATTTTCCAAGTTGCAGAGGCAGTTGCAAGAATAGTCTGTGCCTCCACAAAATACAACCTAATCATAATCATTCCAGACATCTAGGTGCTTTTTTAGAGCTTACCAAGTGCTTTCAGGTGTATTAACTCACTCTGTCCCCACCATAACTCAGTGGGATGGGCATTGTCACCTGCAGTTATAAAGGAGGAGACTAGTGGTCAGAGAGGCTGAGGGACTGGAATCGGATCCCCAGCTCACAAAGGACAGAGCCAGGTGCAGAAGCCATGCTCCTGGTGGTGCCCTAACCACCTAACCACAGCAATGCTGTTCAGCTGGCTATGGGGGCAGGGTTCCCAGCAGCCTCCCCAGGGCATCTCAGATCCCCAGCCAGCCTAGCCTAGCTCCAGTGCACCCCCAGCAGTTTCTCAAGCCTGACCATCTGTCTCCCCCAGCCCTGCTTCAGTGCTAGGAGCACCCAGTCCCCCCGGGCTGTCGCCATGTACACGCCGCAGCATTTTACTTCTGCTCTGGAGTAATGGAAGAGGTTTCTTTCCCTCAGAATTTAATTTCACGCCTGAGCCTCGGTGATTAATTCCCTCCCTCCGCCCCTTCCTCCACCACCCTGATGGCCCCTCCGCTTGTAAATTCTGCAGTGTGCCACGGAATTTGTGTATTTTGCATCAATTAAGTGTCACATTGAGTAATTCTTCCTTGGCACTGGGTTTGTTTATCCCAGCCATTCCCACCGGGTTGGGGGTGGGAGAAGAGGCCACAGAATCTGGCAGGCAGGGCACATGAGCTCTAGATAGTAATTGTCCCACGCATCTGCAGCTGGATTGAGCGTCTAAAGCGCTTCCACACACCTATACTACTGGTTGCCTGCAACGGCCTTGTGAAGTCTGGAGGCAATGTTATCACCTCCACCAGGGCAGGTGGGGAAACTCGGGCTCTAGGAGATCACAAAACTTGCCCAAGGTCACAGGGCTTCTCAGTGACCCAGGCAGAACTTGCCCCTGGAGAGCCTGATTCCCAACCCGGGCTCCTTCTGTGGCCCACAGGCAGCCCCTGACGAGCACTGGAAGGTGGGAAGAGAACAGAGATTCTTTCCCCTAGAGAGGAGAATTCTCACCCCAACCCCTCTCCAGGGCAATTGCTGAGGGCAGAGGAAAGCTTCCATTAGTGAAGGGACCACTATCCACTCCTAAGCAAAATTTAGGATTTTAGATTACTCCATCTCAGACGCCATTTACTGAACAAGGGTGGGGGAGACCTGGCTTCTGATCTTAGCTCCATGTTGTGATCCCAGGCAGGTCCCTGTACGTCGCTGGTCTCAGCATCCTCATCTCTTTGTGCCTCAAGCTCCCTAAGCCAGCTCTATAATTCCACAAGTCTATACAGTTCTGCAATGTGGATTTCTATCCAGAAAAATCAGACTACTCGCCTGCCCATGCCTGAGTGCCCCATTCATCCTCCCTAGACATTTATGGTTCAGCAGCCTGGGGAGATACAGCAGCGGTTTAACGCTGCCTTGAGGAGCTCGGTCTTCCAGGTGCTGACTGCCCTTGGAAGGGGCAGTGCTGATGGGGGCTGCCTCTGGAGAGTCACGTGGGGTGGCAGAGGGCAGGAGGGTGGGGAGATGGGGAGACTCCCTTTATGACATGCTCTTCTATACTTTCTGAAGTTTTGCCAAGTCCATATGTTATCTATTTTATCTGTTAAAACACTTTTAAAGCTTGTATTAGTATTAGTATCATCATTATTTTTGAGACAAGATCTTGCTCTGTTGCCCAGGATGGAGTACAGTAGCACAATCATAGCTCACTGCAGCCTCACATCTCTGGCTCAATTGATCCTCCCACCTCAGCCTCCTGAGTAGCCAGGACCACAGGCTTGTGCCACCACACCTGGCACTATAGTCATGTGTGTGTGTATGGTTTTGTTTGTTTGCTTGGTAGACATGGGATCTCACTGTGTTGCCCGGGCTGGTCTCCAACTCCTGGGCTCAAGTGATCTTCCCACCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCTACTATGCCTGACCTATTATTAAAACATTTATTTTAAAAGAAGGGGAAGTTCTGAGCTGGGCACGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAAGCCGAGGCGGGTGGATCACAAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACTCCGTCTCCACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGGCACCTGTAATCCCAGCTTCTTGGGAGGCTGAGACAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAAAATAAAAATAAATAGCAGGGAGTTCTTTGAAAATAAAATGAAAGAAAAAGAAAAATCTGTGGGAGTCATTGAGAGTGGCCTGGAGAAGGCATCCAGAAGAGGTGACATTTAAGCTGGTTTGTGAAAGATGAGTAGGAGCTGGCCAGGCAGAGCAGGCTGGCTGGGCATCCAGGTGACCCAGGTGACCCAGCACACCACCGCAGGCTTCCATGGAGACAGGGGACAGTGTAGGCAGGCCAGGCCGACTCACTGGCCCAGATCATAGAAGGCCTTGGCATTGAGGATAAGCAGCGGAGGTGTGTTGTGTAGGTGAGGGGCATCCTGGGGAGGTTTAAAACAGGAGGAGGTCCCCCAGGGGCAGGAAACCCAGAGAGGCCTTGGAGGGTGGGAACGAGCCTGAGAGGGCCGACAGGACACCACTCAGAAATTCCTGGGCATTGCACACAGAATCCTGCCCGCAGGCGCTATGGTTTTCTGCAGCTTCAGGCCACAGGTCTCGTAGTTGCTGGTTTCTCTTGGTTTTGGAATGCGAAATAGAGGATTGTCACAGGTGACTGTGGTGGGGCTTCTGAATCCTTCTAGGCTCTGATGGAAATGCACTGGTCATTTCTGAATCTGTCCAGAGTTTAGGCAGAAGACAGAGCAGGAACAGATAGATCGTCCTCCCATCTCCCAGTAGGCCTAGAGAGATACTTACCATGAATTGCAAACTTGAGACGTCATGACACATCACTGCTCTACAGCCTGGGCCAGAATCCAGGGACAGAGCTAGGTATGGTGGCTCAGGCCTGTAATCTCAGCATTTTCAGAGGCCAAGGCAGGCGGATCACCCGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCTGTCTCTACTAAAAGTACAAAAAATAGCTGGGTGTGGTGGTGCGTGCCTGTAGGCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACCCACTGCCCTCCAGGCTGGGTGACAGAGTGATTGAGACTCCATTTCAAAAAAAAAAAAAGAAGCCAGGGACTCTCCGTGGGAAAGGAGTTCTCATGCACACCCTCTCCCTCCCTGCACGTCTTGCTCTCTTCCGCCTTCTTCCCTTCTTCCATCTGTCTCTCTGTCTGTCACTCTAGTCCCGAACTCCATCATATCCTCTCCTCCTCCCAGCCCCTGCTGGGAATCCCAGTCAAAGTTGTCTGGGGCTTGGTCTGGCCTGAGCACAGAAGACACAGTGCACCCTCCCTGAAATGTTCCTCTGGAGCCGCCCTGGAAACTGCTCGCTGTGGGCGCCAGTGGGCAGCAGGCTCCTGTCTGGGTGCTTGCCTTCCCTCCCCCAGCGCCACTTCATCCCACCCAGGGCTGGCCAGGGCTGCCGACCCTCTCTGCCTTCCAG
Seq C2 exon
ACCCTGCTGAGTCGATCCCCACCATCCTGGATGGCTTCCACTCCCAGGAAGTGTGGGCCGGCCACACCGTGGAGCTGCCCTGCACCGCCTCGGGCTACCCTATCCCCGCCATCCGCTGGCTCAAGGATGGCCGGCCCCTCCCGGCTGACAGCCGCTGGACCAAGCGCATCACAGGGCTGACCATCAGCGACTTGCGGACCGAGGACAGCGGCACCTACATTTGTGAGGTCACCAACACCTTCGGTTCGGCAGAGGCCACAGGCATCCTCATGGTCATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000177103-DSCAML1:NM_020693:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.160 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0767911=I-set=PD(51.1=94.0)
A:
NA
C2:
PF0767911=I-set=PD(85.7=95.7)


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:
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