ENST00000418282.1

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BPESC1 ( BPES candidate 1), which contains three exons and spans a genomic fragment of 17.5 kb, is 3518 bp in size and contains an open reading frame of 351 bp.

Contents

Annotated Information

Name

BPESC1: blepharophimosis, epicanthus inversus and ptosis, candidate 1A (non-protein coding)(HGNC nomenclature)

NCRNA00187, "non-protein coding RNA 187"[1]

Characteristics

BPESC1,a novel gene disrupted in a BPES translocation patient[1]

BPESC1 ( BPES candidate 1), a novel candidate gene that is disrupted by the translocation on chromosome 3. BPESC1 is 3518 bp in size and contains an open reading frame of 351 bp. BPESC1 contains three exons and spans a genomic fragment of 17.5 kb.[1]

Function

BPESC1 may play a direct or an indirect role in the clinical features of the t(3;4) BPES patient.[1].


Expression

BPESC1 is expressed neither in the adult ovary nor in the early fetal tissue might suggest its role in this specific developmental disorder.[1]

Gene-specific primers(GSP) PCR Forward Reverse
Primer set 1 RACE 5'R-GSP1(5'-AAC-TCA-CAC-CTA-CTC-CTG-TTT-CG-3') 3'R-GSP1(5'-ATA-ATA-GGG-AGG-TTG-GGG-AAG-TG-3')[1]
Nested RACE 5'NR-GSP1(5'-CCT-ACT-CCT-GTT-TCG-TCT-GTA-CC-3') 3'NR-GSP1(5'-TTG-GGG-TAC-AGA-CGA-AAC-AGG-AG-3')[1]
Primer set 2 RACE 5'R-GSP2(5'-TGT-GGC-CGG-AGG-AAC-TGA-GTG-AC-3') 3'R-GSP2(5'-CCC-GAG-GCC-TTG-ACT-GGT-GAG-AT-3')[1]
Nested RACE 5'NR-GSP2(5'-AGA-CTC-TGT-GTG-GGG-ACC-TTC-AT-3') 3'NR-GSP2(5'-AGG-CCT-TGA-CTG-GTG-AGA-TTA-GC-3')
Primer set 3 RACE 5'R-GSP3(5'-AAT-AAA-ATG-CCC-ACA-GGA-GAG-TT-3') 3'R-GSP3(5'-GAG-CCC-CCA-GAT-TCT-CAC-CTT-T-3')[1]
Nested RACE 5'NR-GSP3(5'-GGG-GAC-ATG-GAA-GAG-GAA-GAC-AA-3') 3'NR-GSP3(5'-TTT-CTT-CTG-CCA-GGG-TTC-TTC-3')[1]
Primer set 4 RACE 5'R-GSP4(5'-GAG-TAG-CCC-CAA-GGA-TGT-GTC-3')[1]
Nested RACE 5'NR-GSP4(5'-CTC-CCT-CAC-TCC-CAA-GAT-TTG-TG-3')[1]


Labs working on this lncRNA

  • Department of Medical Genetics, Ghent University Hospital, B-9000, Ghent, Belgium [1].

References

  1. 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, et al. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES[J]. Genomics. 2000,68(3):296-304.

Basic Information

Transcript ID

ENST00000418282.1

Source

Gencode19

Same with

lnc-C3orf72-1:1,BPESC1

Classification

intergenic

Length

3518 nt

Genomic location

chr3+:138823027..138844009

Exon number

3

Exons

138823027..138825263,138828054..138828147,138842823..138844009

Genome context

Sequence
000001 AAAGGAAGAA GAGGAACACG TTGCTGTGTG CTCGTGGCAC GTGGCCTGTT GGGTCCTTTC GCAGTCCTTT GAAGCAGTTG 000080
000081 CTTTTACTGT CCCCTGTTTT ATAGAAGAGG AAACAGCCAA GGTGACTTAA GGGCAGAGCG CCAGCAGGTA TGGAGCCTGA 000160
000161 ATTTAAATGC AGGTCTGCAT ACTGCAAGCA CCTGGGTTCT CTCCACCCCT CCTCTGGACT CCCATTTGTT CTCTGTCAGT 000240
000241 GACTGAGAAA GGGTGGGTGG GACTAGGAAC TCAGCTTCCG GTCCATGACC ACATCCATGG AATATGGGAG GAAGAGATCA 000320
000321 AATCACAAAT CTTGGGAGTG AGGGAGAGAC ACATCCTTGG GGCTACTCAA GCCCCCCATA TCCTTTGCAT ACCTTCTTTA 000400
000401 TCCCTTTTCT ACCCAGTGGA TTTGGAGGGA GTGGGCTTGG GATACCATCA GACAACGAGA AACACGATTT GCAGGACTGT 000480
000481 GTGGAGGTAT CCAGGCCTGA GGGCCCTGCT CCAGAGCTCC CCTCCTCACT CTGTGGCTGG AACAAAATCT CTTCCTTGTG 000560
000561 TGGCCTTGGC TTCCCTAGCA GGGATCCCAA AACATGGGAT CTGGCCATGC TGCTCAGTCC TTGGGTTGAT TTCTTTGAGC 000640
000641 TCCAGCTTCT CTGAGCATCC CCTCTGCTGT CCCCACATCC TGATAGCCCC TCTGGGAGCT GGGGCCTGGC CTTTCTGCCC 000720
000721 ATTCTCAACA AACACTCTTG TCTGGAGACA GGCAGGACAA TGGAGAGCTA CCTTGTCCTG CTGCTGCCCC TGCCACCACA 000800
000801 GCTGCTTATG TGTGACCGAT GGGGTTGAGA GGGGCAAGAG TTCTGTGGAG AGAGTGGAGG GAAAGAGTTT TTTTTTTTTT 000880
000881 TTTTTTTTTT TTTGCTATGC ACAGTTCCTC CCAGCAACCT TCCCTCTCTG ACCAATGGGG CCTCTAGGCT CTGCCCTTCA 000960
000961 CGTTGGGGTC TTTCCCCACC TCCGGCCCTT TGGTTTTGAT ATGGCTAGTG ACCAGCACTG ACCACCATCC CAAGCTGGGA 001040
001041 AGAGCAATTG GTGAAGAGTG TGTGTACTAT TTACTTTCTT CACCCTTGCC CCTTTATTCT CAAGGTCTTT TGATTGTGAA 001120
001121 GCAAGGCCCG AGGCCTTGAC TGGTGAGATT AGCCCGGGAG GTGGTGGCTC CCTCCTGCTC TCTGTGGTGA AAGCCAAGCA 001200
001201 CACTTTCCTA AAACCAGCGT CGGAAGCTGT GCTGTAGCCT GTAATTACTG ACATGAAGGT CCCCACACAG AGTCTGGATG 001280
001281 GAGGCTGCCC TGGAAGCAGC CCCGGGCTGG GAAAGGGCTG AGTGTCAACA GGCCTGTGTT TGAATCCAAG TCACCTGTGT 001360
001361 TCTCTGACAG GTCACTCAGT TCCTCCGGCC ACAGCTGCCC CTCTGTGAGA TGACATAACA CTGCTTACCT CTTGGTGTGG 001440
001441 CTATGAGGAT TGATTGGGCT GATGTGTAGA AAATATGTAA TGCAGGGCTT GTCCTGGAGG TGATGTTAGG TAATGGTGAG 001520
001521 GTGGATCTTC CCTGTGTGGT CCCTCCCTTC GTGTGCCCCT GCCCAGCCTC TTGGCACCTC CTGTTTACTC CCCGAGCCCC 001600
001601 CAGATTCTCA CCTTTGCCCA GAGCCACATT CGGGCTTGTC TTCCTCTTCC ATGTCCCCGC ATGCAGAATC CTCTCTTTCT 001680
001681 TCTGCCAGGG TTCTTCCTCT CCAAGCCCTC CTCTGAACCA GCTATCCCTC TGGAATGCAG CTGACCAAAC AAATTCCCAC 001760
001761 TAATGTAACT GGTAGTATCT TAGAGGTGAA CTCTCCTGTG GGCATTTTAT TTGTATCTTA GAAGAATTTT TGTTTTAAAT 001840
001841 CTTATTTTTC CCAACTGGCA TATAGTAGGG TGCTCAATAA AGGTGGGTTG CCTGAATAAG TGAAAGAACC TAAGGAACAA 001920
001921 TGTCTAATGG TGGAATTTCA GTCATGTCTT CATGCTTTCA GCCTCTCTGC AAACATTTAT TTTGTGTGCT AGATACTGGA 002000
002001 GATATGTTGC TGGATAAAAC AGCCACAGTC CTTGCCCTTT GGAACTTCCA GTATAGTGGG GACAATCAGT TAATAAGCAA 002080
002081 ACAAACACAT TTCTATTTAT AAATGGTGAT AAAATTCCTT GGCTAAAAGA ATATTGCAGA GTCTATGATA CTGTATAACA 002160
002161 GGGGCTTCTA ATTAAATTTA GGGGATCCTG ATGCCACTTA GCAGTGGGAT TTCAGAGGAC CTTTCAGAGG AGCTAAGCAT 002240
002241 TTATCAGCTG CCGCTTATTC ATTGCCTTGA TTTTCTTCAA AAGACAACTA TAATCATTCA AAAATTCCAA GTTGGGTCCA 002320
002321 AAATGTCAAA GGACTCTGCA TGCTGCTGAA AGCAAATGAA TGTGGAGGGT TTCAAACAAG ACAAAAGGCA TTCCTCCCTG 002400
002401 CCCAATCCCA GTGCAGTCAA GGCCAACCTA GGCAGCAGCC ACCTTCTCAG GAAACAAGGC CTTGGAGAAA TCAGTGCCTG 002480
002481 TGTGAAGATG GTGTCGGCTG AAAAGAAGAG CAATGGCGTC AAGTACTAAA TGATTATCAA GGGTCAACTT CTGTATCTGT 002560
002561 ATCAGCTGCA ACACACTGTC TTTAATACCC CCAGCCCAGG AGCTCGTGCC TTACATGCTG GGCCCACATT CTGCCCCAAG 002640
002641 CAGAAGCTGC AGGGACCTCA GTGTCCACCC TTCCTGCCTC ATGTCTCAAG GCAGCAGCTC CTCTCTGGTA ACCTGATGGT 002720
002721 GATGTGGCCA GGGTGCCGAG ATGGGACAGC AAAGATGATG GGCTCTGCAC ACCAACTCCA GGAAACTCAT TCTGGGCCAG 002800
002801 CTCTATGCAA AGGGAAAAGC ATGTTGCATT CACCTAGGCC AAGAAACAGT GTTGTAGGTT AAGGGCATGG ACTGCTTGAG 002880
002881 TTCAGTGCCA GCTATGCCAC TTACCAGCTG TGGGACCTTG GGCAAGTTGC CTTTGTGCCT ATGCTTCCAC TTTCCTTTTC 002960
002961 CCTCCACCAT GAAGATGGGT TAAGAGTCTC AAGGTTGTGG TGACTGTAGA TATATGAGTG TGCATTTGCT ATGCTTTACC 003040
003041 TGTCTGGCAT CTAGCAAACA TTCTTCACAT GTTTGCTGTT ATCAAGATTG TTGTATATGT GAATGAAATG ATACGATGTC 003120
003121 TCAGATTTGC TTTAAAATAA TAGGGAGGTT GGGGAAGTGG GTTGGGGTAC AGACGAAACA GGAGTAGGTG TGAGTTGATA 003200
003201 ATGTTGAAGT TGAGTGATCA GTACGTGGGT TTATTACACT ATTCTTTTCA CATTTGCTTT GAAACTGTTC ATAAAAATTT 003280
003281 CCATAATAAA AGTTCTATAT ATATATAAAT ATATACATAC ATATGAGAAA ATGATGTTTA TAGCAGAGCT TCACTAGACA 003360
003361 TGGTATGTAG CATGTAGTGC ACAAGCTGAT TTTAAGTGAT ATTCAGATGG CCTTTTAAAT TTAATTATTA TGTATTTAAA 003440
003441 ATTTAATTAA TTATAGCAAG TGATATGAAC TGTGATAATG CAGAAGGTTT CCTTTTAAAA TAAAGTTCAG TCAAAAAA
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Predicted Small Protein

Name ENST00000418282.1_smProtein_1502:1762
Length 87
Molecular weight 9407.8383
Aromaticity 0.116279069767
Instability index 59.4220930233
Isoelectric point 7.68414306641
Runs 11
Runs residual 0.0117146824019
Runs probability 0.0541985836104
Amino acid sequence MLGNGEVDLPCVVPPFVCPCPASWHLLFTPRAPRFSPLPRATFGLVFLFHVPACRILSFF
CQGSSSPSPPLNQLSLWNAADQTNSH
Secondary structure LLLLLEELLLLLLLLLLLLLLLLEEEEELLLLLLLLLLLLLLLLEEEEEELLLEEEEEEE
ELLLLLLLLLLLLLLHHHHHHHLLLL
PRMN LLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLLHHHHHHHHHHHHHHHHHHLL
LLLLLLLLLLLLLLLLLLLLLLLLLL
PiMo iiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiiTTTTTTTTTTTTTTTTTToo
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