Special

HsaINT0038774 @ hg19

Intron Retention

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:116958239-116967426:+
Coord C1 exon
chr9:116958239-116958292
Coord A exon
chr9:116958293-116967381
Coord C2 exon
chr9:116967382-116967426
Length
9089 bp
Sequences
Splice sites
5' ss Seq
AAGGTACTG
5' ss Score
8.56
3' ss Seq
GCTTCTTCCCCCTCCAACAGGGA
3' ss Score
10.4
Exon sequences
Seq C1 exon
GGTGACATGGGCTTGCCTGGGCTCTCCGGGAATCCAGGACCTCCGGGACGAAAG
Seq A exon
GTACTGTTTGGTTTTGATGCTTTGCCTTGCGCAGTGGGCCTCCTAGCAAGCCAGGTCTTCAGGCAGAAGAGCTGTGGGCCCACCTGCCTCTCCCCAGCCCCAGCCCAGCTCCCCTGGGCACAGGGTACATGGGTGAGAGGTGAGAGAGCTTTCCAAGGGTTGTGCCTGTTGAGGGCAGGGAATACCTCGGCTCGTAGTAGGTGCCTCCCACCACGGTTAATGAGGTAGCATAGGAAGTATCCTTGGTTTGCTGTCCTTCCTTTTGGGGGCCCAGCCGCTCCCAGGGAGGCCACCTTCAAGAAAGCCTGTGGTGATGGAGTAACCTGTGCTGGCCCTGGCTCCACCACCCACTGTCTGAGAGGCCGTGGGCCTGCGAGTCCTGTCTCTGCCCCTCAGCCTCCTCCTACATGAGATGGAGACAATGATCCCCGTCTCTGACCCTGCACAGTCTGGGGCTGTGTGACCAGGAGCAAGGCCTGGAGCGGAGAAGTTGAGGGAGTGGACCCTGGGGTCAGTTGGACCTGGGTCCTACTCCTGCTTCTGCCATTTCCTGGCTGGGTGACCTTGGGCAAGTCAGTGAGCTCTCAGAGTCTAATATGCGGCCCTCGCTGATGCTCTGCAGGGGAAGGGGAAGGGGAATGATCTGGAGAGGCAGTGGGTTCTCTCTATCTTGCTGGCTGTTGTTATGTCACGCCCATCCCATCCCCATTTCAGCCATGCTGGGGGAGTTACCTGTCCAAACGCCTGTGTGAGGAAAAGACTGGCATTTCCTGGGTAGTGGGTCTGTAACTTACAGTCCCCCTGGATTTCTGTGACTCCTCCAGCCTGTGTCTCCCTTCCTTCAAGACTCTACTCTAGTTGTGCCTACTCCAGGAAGTCCTCCTGGAGCACCCAGCTTCAGGCCATGAGGCTCCTCTCTGCTCAAGAACACTTAAGCTGTCTTGGCTTAGTTATTTTGAGCCACCAGGCATGCCTCACCAACCAGGGTGTGCAAATCTGGTTTATTGCTCTTCCTACTGAGCCTAGCATGAAGCCTGTGCATAGCAGGTGTTCAGGAAATGGGGGGAAGGCAATGCAGACTAAGGATCGATTGCTTTTTCCAAGAAAATCCCCAACCGCTGATGGATTGTCTGGTGAATCCATCGGCCTACCACTGTGTCTTAAGCTTCTGCCCTGGCTCCCAGCTGTGGCCACAGCTGAACTCTCTCTAGGCCATCTGGCTCTCATCTGGACAGCTGGGGTGTCTCCCAGCTCCATCCTGTTCTTGCCTTGAGAGCCCCATGACACAGGGGGCCTTGCAGGACCTCGTTCCCCCATTCCCTTCTCCATGGCCAGAGCAGGCCATACCTTCAACCTGAGAGGCCCACCCCAGAAGCAGTGGCTGTTTGTGAGCTGGGAAACATGGTCCTTTCTGGCTCACAGAACACAGAGGGACTTGCGCTCCCCACTTACTTCCTCTCTGGGCTCTAGCGCTTTCTGATGGATGAGGTGTGAGTGGAAAAGGCTCCTTCCGGTCCCAGCTCATAAAGCAGCCTCGGGTGGTCTTGTTCTGCATGGGGGTGGCAGCCTAGCAGAGGTGGCAGGAGATGGGGAAACCAGACTGGAACCAGCTCCTCCCTGGGGTGCCAGGGCTCCTTGCATTAAGCAGATGTCCGGGGAGGCCAAGGACCCCCAACCAAGAGGAGCCAACTCACCTGAGCAGGGAGAGGCAGCTTCTCCAAGTTAAGGAAAAGCCACTGCGCAGCTGGAAAACTATTTGGCAAAGCCAATTGCTCTGAGCTCCCCTCTGGCCCTGGCCTAGACATGCACAGAAGAGTTTCGTCTGTGGCAGGCTGGCGTCACCCACTTACAGAGGGTGCTGGGCGAAGTGTCGGGGAGCTCAGGTCCCAAGGCAGAGACCCCTGACCAGTGGTGGGGATCAGAGAAGAGAACCACTGCCATGGGCAATGTGCCTGGGGCCACCATTGTAGATGGTCTTTCCTATCACACACATCTTTGGTGACAATAGCAGCCACTTGGCTCTGATCTTGCAGTGTGGCTTTTCTGCATTATTTCTTGTGGGAAACCTTGAGGGGAGAAGGGAAGTGAGTGGATAAGAGGTGAGGTTAGCTTCCTCTTCGTGCTTACCAGCACATTGAATTTTTGTCATTCTGAGGCAACACAGATAATCCTATTTATTCATTTATTTAACAAGAATTATTGAATGCCTATAATGTGCCAGCCACTGAGCTGAATGGACAAAAATCCCTGCCCCACAGGGCCTGCATCCTTGTGGGGGTGTGGGGAGACAGAAGATACAAAGAAAAACAGTAAAAATAAAAGGTACACTATAAGACAGAAAGGGCTATGGAGAAAAATTAGCAAGAGAAAGGGAGTTTTGGTTGGAGGGTGCAGTCTACAGCAGTGGCTCCCAGCTGGGGAGCTCAAGCCCCATCGTGGTGATTCTGGCTCAGCTGGTCTGAGTGGGACTCAGGCATCAGTAGCTCTAAAAGGCCTCCAGGTGTTTCCCACATGCAGTCAAGAATGAGAGGCACCAATTTAATGGAAATACCTTCCATGGGTTTCTAAGCTGCAGGGCTAGGATTCGAACCCAGGTCTTCTGACCCTCAGGCCCTTTCTGTCACCACAAGGCTGATTGAAACAGTTTCTCAAACAAGACAGTGTCCATCTGGTAAAAAAAGAGGCTGCCTGCCCGAGAAGGTTTGTTTCTCTGCCACCGCCTGAGATACTTGTGGAAGGAATTTGCTGGGCCAGTTCCCAAGGTGGGGAAGACACGCAAACCAGGTCAGATAGACCTGGATGGAATCCCCGCTCTGTCCCTCTCCTGCTGTGTGAGCTTGGGCAAGTTGCCTCACCTTGCTGGGCCTCAGCTGCCTCATGAGGTGGTTGGGAGGATTAAATGAGATGTAATATCCCTGCCCTCAGCACAGGGCTGGCACACGGCTGGCACTTTGTATGTATTTGTGTGATGAATAAATAATGATCATGATGATCACGAAGAGAAGCATCTGAAGAAGGTCTTGCCAATCTGGTAGCACTAGTCATTTTGCTAGTTTCCAGCTAACCACCCTCCACTAGCCAAGAAGGCTGCCAGAACTCCATGTGCACCTCCCATGCTTTCTCTCATCTAACCCTCCTGCTTTCTTTCCTGTAGACCAGTAGTTCTCAACTTGGGGTGATTTTGCCCCCCAGGGAACAGTTGGCAGTGTCTGGAGATATTTTTGGCCATTACCTACAACTGGGAGGGAGGTGCTACTGGCTTCTAATGAGTAGAAGCCAGAAATACTGCTAAACATTCTGCAGTGCACGAGATAGCCCTTCCCTCCCATACACATACAAGATGTGTTCAGCCCACAAAGTCAGTGTTGAGAAACCTTGCTGTATAGAAACCCTGGCCCCATCCAATCCCATATACCCTGGGCCTTCCTGCCTCCCTGGCCCCCGCTGTGTAGAAACCCTGGCCCCATCCAATCCCGTGTACCCTGGGCCTTCCTGCCTCCCTGTGTTTGCTTCTGCTGTGCCCTCCCCAGGCATGCCCTCTCCTCCACACTCATCCTCATGTGCCTACTCCTTGGTTCTGTTCTTAGAGAAGAATAGCATCTTCTTCAAGAACGCTCCCCAGCACCTCCAGGCAGAAGTGACGCCTCACTTCCTGACCATTTGGCCTCCCTTCTCGGCCTCTTTGGGCTAGTGGGCAACCCACTAGTGTCAACACATTGCTTAGACTGGACAGTGGACAGAACCCAACCTGTTCATCTTTGTTTCCCACGTGGGGCTTAGCGCAGTGCTGACCACATTCAACTCCCTCGCTCCTCACCTCTGGCAAGCCTCACGAATTGATCTTTCTGGCCAAGTCCTGACACAGCCCCTGAATCTTTCTTACCATACTGCCCCAGATAGACATGATGCATGGAACAAAACTGCTACTCAAATCAAAACCTGACTTGCTTCTCTCCAGCCTGACATCCCCCCAGCTCCCTCCTGTTGCCCCCACCCTGCCCCCTAGCAGGAATGCTGCCTGAGTTGGCCATTATCCGTGGAAGCTGTAATAAAATGGGAGAGCACAGGGGTCATCTGGAAGTGTGTCTGGGGAAATGTGATGGAGGCTGCCTGAGACAATTTCCCACCTTTCTGCTGAACTCCCGGTTCTGCCTGAGTGTGGCACCCCCAATTCCATAGAGTTCCTCTCAAGAAACTTCTCCAGGCTCCCCTGCTTCTGCAGCCCATACCCACTGGCATCCCTCCTATCCCATCCTGTGTCTCCTGTCCAAGTCCTGCTCCTCCCCCAAGCCTCAGTTTACAATGTCACCTCCTCTGGCTGGGTGCATCTATATTCTTCTAGCACTCTTCTTCATTCCACCTAATATGCATTTAATGCCCACATCCCCTTGTAGAAGGTAGAGAGTTTTTTCTGTTCACTGGTGTATCTCTAGTGCCTAACACAAGGTCTTGGTCATTGCTGGGACTCAACAGACATTTGTTTGATGAATGAATAACTGGATGAATGAATGAGCCATGCAGAAAATATACCTTCCTGCCTGGAGCCGTCTCAGGCATCCACGGAGCAGAGTTGGGTGTCAGACACCTGGCTGTGCCATGATGGACTGTGCTTTTTGACTAGCCACAGACTTTGGAATCCTACAATTTCTGAGCCCACAGGACACTTGGAGAGGCCAGCTGGGGAAACTGAGGCCCGGAGAGGCACCTTGTCCAGCATCACATAATAAGACCCTCTACTCTAGGCATGTGTTTCTCACTCTTTGATTCTTTCTGTCCTGCTGATGGCCCAGTCTGGGGTGTGGGCTGCCCGGGAGGTAGCGAAGTTCAGCAGAGATTCATGGAGAGCTAAGCAAGCTTGGTGAGTTTCATGTCAACTACAAGGGGAGCTGAGGCCTTGCACAGGCGGAGGTGGAGCCTCGGTGGACAGCCGATGTCTGAGTACATATGGGTCCCTAGGACCCCCAGGCAAGGACGGGACCCCTCCCCTCCCTGCCCAAAGCCCAGAAAGCAGCCCAGCCAGACGGGGAGACGGTTTGTAGCAACAGTGAGGTGATGTCTGGTTTCTCCTTGCGCATTGTAAGCAATGATTCATCTGGCTCCCAAACCAAAATATAGACCGAGTTCTATTATAAACACAGGTTCTGTGGAGACCCGCCTGCTGGGCAGCCAGAGGCCCCTTGCAGACACCACGTTCCCTGGAGCTCCCCGAAACATTCCCTCTCCCTTAGTGCCAGTCAGGCACCGATCGCAAACTGGAAAGTCACTGCCCACGGGCCCACTTCTTGCGGTCAGCACCCGCCCCATAATTGGCGGGGCGCTGCACAAGATAATGGTTTAGATTCTTGCAGGTCTGGGGCCCTGTCATTTGAAGCTATTTGCTGGCCCCAGCTGGTAAACATTGTTAAGATGCTTCCAGGGAGCATAAGCACCTCCCACCGCCTACCTCCCGCCTTGGCTATGCTCGCTCTTCTGCTCCTGGCCATCCAGGAGAAACTGGGGTGTTCACGGCAATGTTCAAGGCCCTTCAGGGTCCCTTGATCAAGAGATACCTAGAAATTGTATATCCCAATGGGTCTGGAGTCCTAGGGAAAAGTACTGGCTTGGCCATAACTTGCTAGGTAACTTTGGACAAGTCCCTTCCCCTCTCTGAGCTTCAGTTTCTCAGTCCGTCCAGTGAGAAAGGAGATTGTCAAACTAATGGTTTGGGGCTCTTTCAACTCAGTTACTCCAGGGTTTCATGACTGACCTCTGCCTGAATAATGCTGCAATGATGTGAAGCTTTCATCCCAGGGAGGCGCATCTATAAGGGGATCTCTCCTTGAGTGGCTTTGTGGCTCTTCTAGGCAGGTCTTAGGCCTCAATGAGCATGTTTCATCCCATGCTTTTTGATGGCTAAGGATGCGGGATTGGAGTCACAGGCCAGGCGCTGCCCCTAGAAAGCTGTGTGGCCTCAGCAAAGTCTCTTTACCCCTCTGAACATCAGTTTCCTCAACTGGCAAATGTGTATGGTAATTTCTGCCTCCTAGGAGTGATAGCAAGGAGTCCATGAACTGATATGTGAAGGCTTCAGTGCTGAGCCAGGCATAGGGCCTGCCACTGTGCATGCCCGTGATGATCATTCACTTCCATTTAGCTGCATCCTGAGTAAAAGGGTTTACTTGAAATCTTCTCCTGGGATTTCACTGGAGAAATGCCTCTGCTTCCTTTGTGGGGAGGTTTGGGGGCTGAAGAATTGGTTTTCAGCAGAGTTCTTGTGGCTGCAGATGAAGCCACAGGAGCTGGTGATGGCCAAGGGCCCCCTGGACCCCACATTATGGTTCTCTTGGGGTTCTTGCCCTGTTACTCCATTGGATCTTTGCAGGCAGGTAGAATACGGCAGAGTGAGCTTCAGAGAGGATAATTACTCATACAGAGTCACATAACCAAGAGTGCAAGGCTCCATTCAGCTCTTCACTGGGAAAAAGTTTCACTTGTTCTTCCTAATCTGCAAGCTCCAGGTGGAAAAATGATGATCACGGCTGTTAGTTACATCATGTCGCGCTACCTCCCTGCTCGAAGAGCTTCTGTGGTTTTGCATCATATCACCGCCAGCATGCTCTGACCTCCTGCTTCTCCAACCACCGCCATCCTTCACCCTCTCACCCACTCTATTCCAGTCATACAGGCCTTCCTGTGTTCCCTCCAAGCCACTTGAGGGCATTCTTGCCTCAGGGCCTTTGCACTTGCTGTTCCCTCTGCCTGCACTGCCTTTCTCCATGGAGCCAGCCCTGTGTTCATCCCATTCATCTCCTTAGAGCAGCCTTTGCTTGATCCCACCCTCTCTTCACCATCCCTCCCCAATGCCGTGTTCTCTGTCTGTAACTTTACTTCCTTTTCTTCACAGCACTGATCACTACTAGACATTTTCTCTCTGTTTCTGAAAAGATTTTATTTTAATTGTGGTTAAAAAGCATATAACATAAAATTACCATCTTAACCAATTTTAAGTGTACAGTTCGATAGCGTTAGGTACATTCACATTGTTGTGCAATCAATATCCAGAAATGTTTCATCTTGCAAAACTGAAACTGTACCCATTAAGCAACTCCCCATTCCTCTCTCCTTGCAGCCCAGATGTTATTTTTGTTTGCTTTGTTTTTATACCTCCTTAATTAGAATGTAAACTCCTTTAGGGCAAAGGATGTTGTCTGTCTCATTCTTCCTGTGCCTAGAATGGTGCTGGAGCATGAAAACTCGGTAAATGTTTATCGAATGAATGAATGAAAAATGAAGATTATGATAACAGCAGCTAACCTTTTCAGCGCCCTTGAATCCAATGCCAAATACTGCGCTTTACACACTTTCTATCCTGCCATCCCTGCTCCAACTTTGTAGCCCCATGTTATAATTGAGGAAAATGAGATTCTCAGAGGTGAAGTCATTGGCTTTGGGTCACCCAGCCAGCCAGTTAGTACAGTAGTACTGGAATCCAGATGGGTCTGAAACAAGAGGTTGTATGCCCCGGTTTGCCCACTGGGGAAAAGAGTACACGCCCCAGCTAGAAGAATCACACCCAACCTTGTTGCATCAATCTCCATAGGCCCCTGAATCTGAGATACAATCATGTCACTGAGGGCTCTTGAGACATGAATAGGTGCAGAAAGAATGCTTGTAAACTCTCCAGACCTCTTAGATCAAACTGACTCTGCTGTTTATAATAAAGAGTCCCCACTTCCTGGGGGCTGATGGGGGGTGTTGAGTGTGTATGCCTGTGTGTGTCTGTGTAAGTGCATGGAGCTGTACATGTCTGGAGATGTTTGCAAGATTTCCAGCGTGTTCCCAGATGTCAGAAGGATCTGGTAGTGAGTGCCTGTGGCTTGTTAGCAATGGGACTCAGAGTAGGCGTCTTCAGTTCTATGAGACTCAGTGTTCTCTGTAAAATGGAGATGATAGTCGCCCCCGAGCCCAGCTCATCTGACTGTTGGAAGGAGTAGATGAAGTCATCTATTATGCACGTAGTCCTGGGTAAACGGCAGCACATAGAGAGGGTCTACAGGTTTGAGCGTGCATGTGCGCGTGTGTGTATTCTGGTCTTGTGTGTGTATTTTAGACTCTGGAGGAGTCTTCAAATTCTAGGGTTCTAAAACATCATAGCTGAAGAGGACTCAAGAGTTCTAACTCCCTTATCTGAAGTTCAGAGAAGGGTAGGAACCCACCCAAAGTTGCATAATAAGTTAGGGACAGCATCTAAAGCAAGCCCAGAGCTCCCTGCGTAAGAGGGTCTAACATGGATGAGTGTGGCTACCCTGTGCACAATGGAAGCCCCCCATCTGATGGAAGCTTGAAGTCTGAGGTTTCCTTTGGAGACCTTACTCTTATGAAATGGCTCAGGTGATTATACCTGGTGCCACCTGAAAGCACACAGTCAGCTTGGTTCTCTCGACTCAGAGGCCTGGCCTGGACATGCCTTTTGGCCATCAGGACAGAGGGTCAAGGTTGGTACTGGGGCGTTGCCAGAGTCCTTCTCATCAGTATCTGGATGGCCTATCCCTCCCTGGAATAGGAGCTGGGGCCGGTGGGAGAAGGGAAACAACTATTTGGGTTAATAAATGTGGTCAAGGCGTGTGATGGGGGCTTTATGAGAAGGGGCAGGTCTTGAAAGGGGAGGGAATCCCAGCATCCCGTGTGACGTGGTGGCTCAGCACAGTCCAGACCTCAAGTCCTACTCAGTTTACTCCTCCATTGACAAATCCTAGCCCTGAGAGACGGTCTCGCCTTCTCTCTTGATTCAGAAGGAATGGTTGCGATACACCATCTCTTGGTCACAGTTGCTCTGTCCCAGTTCAGCTCACCTACTCTGCCAGAGCAGTGAATGACCCTCCTGATGTCCTCTGGCCTAAGAACCACTGGGAGCAGAGAGAAAACCTTAGGAATATGTGAACCCTCACATGGTATCTGCATCCATCTGGGGAACCTTTACTGAGTGCACACTCCATCCCGGATGCAGTACATACGGTGCTGAACAGGGCAGGCCGGGAGGCTGGGCCCTTGCGATCTCCAGGACCAGATGTGTCCTCCCTGCCTGATGCAGCTTCTTCCCCCTCCAACAG
Seq C2 exon
GGACACAAGGGCTATCCTGGACCGGCAGGGCACCCCGGAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-COL27A1:NM_032888:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(17.7=61.1),PF0139113=Collagen=PU(21.9=77.8)
A:
NA
C2:
PF0139113=Collagen=FE(21.2=100),PF0139113=Collagen=PU(10.5=60.0)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
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

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development