LINC02514 (long intergenic non-protein coding RNA 2514) - Rat Genome Database

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Gene: LINC02514 (long intergenic non-protein coding RNA 2514) Homo sapiens
Analyze
Symbol: LINC02514
Name: long intergenic non-protein coding RNA 2514
RGD ID: 12904485
HGNC Page HGNC:53503
Description: ASSOCIATED WITH Autism; autistic disorder; factor XI deficiency
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384187,370,648 - 187,371,921 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4187,370,648 - 187,371,921 (+)EnsemblGRCh38hg38GRCh38
GRCh374188,291,802 - 188,293,075 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map4q35.2NCBI
CHM1_14188,267,000 - 188,272,819 (+)NCBICHM1_1
T2T-CHM13v2.04190,717,917 - 190,719,190 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Hereditary factor XI deficiency disease [RCV002280381] Chr4:186194495..190175048 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.2(chr4:186218358-187484068)x3 copy number gain See cases [RCV000050554] Chr4:186218358..187484068 [GRCh38]
Chr4:187139512..188405222 [GRCh37]
Chr4:187376506..188642216 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1 copy number loss See cases [RCV000050665] Chr4:183528264..188624331 [GRCh38]
Chr4:184449417..189545485 [GRCh37]
Chr4:184686411..189782479 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1 copy number loss See cases [RCV000050771] Chr4:173599911..188624331 [GRCh38]
Chr4:174521062..189545485 [GRCh37]
Chr4:174757637..189782479 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1 copy number loss See cases [RCV000051215] Chr4:175483683..189975519 [GRCh38]
Chr4:176404834..190828225 [GRCh37]
Chr4:176641828..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] Chr4:167218288..189975519 [GRCh38]
Chr4:168139439..190828225 [GRCh37]
Chr4:168376014..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3 copy number gain See cases [RCV000051805] Chr4:179946068..189548183 [GRCh38]
Chr4:180867221..190469337 [GRCh37]
Chr4:181104215..190706331 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1 copy number loss See cases [RCV000053349] Chr4:171507704..189869726 [GRCh38]
Chr4:172428855..190790881 [GRCh37]
Chr4:172665430..191027875 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1 copy number loss See cases [RCV000053352] Chr4:172356988..189975519 [GRCh38]
Chr4:173278139..190828225 [GRCh37]
Chr4:173514714..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1 copy number loss See cases [RCV000053353] Chr4:173754675..189343295 [GRCh38]
Chr4:174675826..190264449 [GRCh37]
Chr4:174912401..190501443 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q34.2-35.2(chr4:176263514-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053373]|See cases [RCV000053373] Chr4:176263514..189975519 [GRCh38]
Chr4:177184665..190828225 [GRCh37]
Chr4:177421659..191133668 [NCBI36]
Chr4:4q34.2-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1 copy number loss See cases [RCV000053374] Chr4:177442769..190042639 [GRCh38]
Chr4:178363923..190828225 [GRCh37]
Chr4:178600917..191200788 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179669472-189975660)x1 copy number loss See cases [RCV000053375] Chr4:179669472..189975660 [GRCh38]
Chr4:180590625..190828225 [GRCh37]
Chr4:180827619..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179945868-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053376]|See cases [RCV000053376] Chr4:179945868..189975660 [GRCh38]
Chr4:180867021..190828225 [GRCh37]
Chr4:181104015..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:181455566-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053377]|See cases [RCV000053377] Chr4:181455566..189975660 [GRCh38]
Chr4:182376719..190828225 [GRCh37]
Chr4:182613713..191133809 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1 copy number loss See cases [RCV000053378] Chr4:183354112..190042639 [GRCh38]
Chr4:184275265..190828225 [GRCh37]
Chr4:184512259..191200788 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185074103-189867552)x1 copy number loss See cases [RCV000053379] Chr4:185074103..189867552 [GRCh38]
Chr4:185995257..190788707 [GRCh37]
Chr4:186232251..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185351249-189867552)x1 copy number loss See cases [RCV000053394] Chr4:185351249..189867552 [GRCh38]
Chr4:186272403..190788707 [GRCh37]
Chr4:186509397..191025701 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:186936679-187652502)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054078]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054078]|See cases [RCV000054078] Chr4:186936679..187652502 [GRCh38]
Chr4:187857833..188573656 [GRCh37]
Chr4:188094827..188810650 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x3 copy number gain See cases [RCV000133708] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190828225 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184406972-188915538)x3 copy number gain See cases [RCV000134158] Chr4:184406972..188915538 [GRCh38]
Chr4:185328126..189836692 [GRCh37]
Chr4:185565120..190073686 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1 copy number loss See cases [RCV000134276] Chr4:182437091..190018185 [GRCh38]
Chr4:183358244..190939340 [GRCh37]
Chr4:183595238..191176334 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3 copy number gain See cases [RCV000135693] Chr4:180451652..190095391 [GRCh38]
Chr4:181372805..190828225 [GRCh37]
Chr4:181609799..191250527 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:186187749-189800953)x1 copy number loss See cases [RCV000135893] Chr4:186187749..189800953 [GRCh38]
Chr4:187108903..190722107 [GRCh37]
Chr4:187345897..190959101 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1 copy number loss See cases [RCV000136115] Chr4:173854560..189548183 [GRCh38]
Chr4:174775711..190469337 [GRCh37]
Chr4:175012286..190706331 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184239531-189975519)x1 copy number loss See cases [RCV000136942] Chr4:184239531..189975519 [GRCh38]
Chr4:185160684..190828225 [GRCh37]
Chr4:185397678..191133668 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:186936679-187589945)x3 copy number gain See cases [RCV000137039] Chr4:186936679..187589945 [GRCh38]
Chr4:187857833..188511099 [GRCh37]
Chr4:188094827..188748093 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1 copy number loss See cases [RCV000137101] Chr4:177985956..189975519 [GRCh38]
Chr4:178907110..190828225 [GRCh37]
Chr4:179144104..191133668 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1 copy number loss See cases [RCV000137262] Chr4:178549472..190095391 [GRCh38]
Chr4:179470626..190828225 [GRCh37]
Chr4:179707620..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1 copy number loss See cases [RCV000137343] Chr4:178014570..190095391 [GRCh38]
Chr4:178935724..190828225 [GRCh37]
Chr4:179172718..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1 copy number loss See cases [RCV000137345] Chr4:180574962..190095391 [GRCh38]
Chr4:181496115..190828225 [GRCh37]
Chr4:181733109..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 copy number loss See cases [RCV000137532] Chr4:166317587..190095391 [GRCh38]
Chr4:167238739..190828225 [GRCh37]
Chr4:167458189..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3 copy number gain See cases [RCV000138540] Chr4:169901205..190095391 [GRCh38]
Chr4:170822356..190828225 [GRCh37]
Chr4:171058931..191250527 [NCBI36]
Chr4:4q33-35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:185790027-187829822)x4 copy number gain See cases [RCV000138568] Chr4:185790027..187829822 [GRCh38]
Chr4:186711181..188750976 [GRCh37]
Chr4:186948175..188987970 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1 copy number loss See cases [RCV000138668] Chr4:183072743..190095391 [GRCh38]
Chr4:183993896..190828225 [GRCh37]
Chr4:184230890..191250527 [NCBI36]
Chr4:4q35.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185698962-189975613)x1 copy number loss See cases [RCV000139618] Chr4:185698962..189975613 [GRCh38]
Chr4:186620116..190828225 [GRCh37]
Chr4:186857110..191133762 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1 copy number loss See cases [RCV000140396] Chr4:169873508..190018185 [GRCh38]
Chr4:170794659..190939340 [GRCh37]
Chr4:171031234..191176334 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 copy number loss See cases [RCV000140414] Chr4:165281036..190018185 [GRCh38]
Chr4:166202188..190939340 [GRCh37]
Chr4:166421638..191176334 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3 copy number gain See cases [RCV000140450] Chr4:179295511..190036318 [GRCh38]
Chr4:180216665..190957473 [GRCh37]
Chr4:180453659..191194467 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1 copy number loss See cases [RCV000141490] Chr4:173989029..189975519 [GRCh38]
Chr4:174910180..190828225 [GRCh37]
Chr4:175146755..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4 copy number gain See cases [RCV000141753] Chr4:182732498..187998523 [GRCh38]
Chr4:183653651..188919677 [GRCh37]
Chr4:183890645..189156671 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 copy number loss See cases [RCV000141964] Chr4:167373716..190036318 [GRCh38]
Chr4:168294867..190957473 [GRCh37]
Chr4:168531442..191194467 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1 copy number loss See cases [RCV000143079] Chr4:172501374..190095332 [GRCh38]
Chr4:173422525..190828225 [GRCh37]
Chr4:173659100..191250468 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1 copy number loss See cases [RCV000143232] Chr4:170899124..190036318 [GRCh38]
Chr4:171820275..190957473 [GRCh37]
Chr4:172056850..191194467 [NCBI36]
Chr4:4q33-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 copy number gain See cases [RCV000143331] Chr4:168119317..190095391 [GRCh38]
Chr4:169040468..190828225 [GRCh37]
Chr4:169277043..191250527 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:185601825-187530334)x3 copy number gain See cases [RCV000143575] Chr4:185601825..187530334 [GRCh38]
Chr4:186522979..188451488 [GRCh37]
Chr4:186759973..188688482 [NCBI36]
Chr4:4q35.1-35.2		 uncertain significance
GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1 copy number loss See cases [RCV000143626] Chr4:176756632..189621964 [GRCh38]
Chr4:177677786..190543118 [GRCh37]
Chr4:177914780..190780112 [NCBI36]
Chr4:4q34.3-35.2		 likely pathogenic
GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3 copy number gain See cases [RCV000051804] Chr4:172200228..189975519 [GRCh38]
Chr4:173121379..190828225 [GRCh37]
Chr4:173357954..191133668 [NCBI36]
Chr4:4q34.1-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:187347785-190042639)x1 copy number loss See cases [RCV000054094] Chr4:187347785..190042639 [GRCh38]
Chr4:188268939..190828225 [GRCh37]
Chr4:188505933..191200788 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q35.2(chr4:186554379-189324047)x1 copy number loss See cases [RCV000140992] Chr4:186554379..189324047 [GRCh38]
Chr4:187475533..190245201 [GRCh37]
Chr4:187712527..190482195 [NCBI36]
Chr4:4q35.2		 uncertain significance
GRCh38/hg38 4q35.2(chr4:186625270-190018185)x1 copy number loss See cases [RCV000141423] Chr4:186625270..190018185 [GRCh38]
Chr4:187546424..190939340 [GRCh37]
Chr4:187783418..191176334 [NCBI36]
Chr4:4q35.2		 pathogenic
GRCh38/hg38 4q35.1-35.2(chr4:184327081-189975519)x1 copy number loss See cases [RCV000133709] Chr4:184327081..189975519 [GRCh38]
Chr4:185248234..190896674 [GRCh37]
Chr4:185485228..191133668 [NCBI36]
Chr4:4q35.1-35.2		 likely pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q35.1-35.2(chr4:186129390-190095391)x1 copy number loss See cases [RCV000137828] Chr4:186129390..190095391 [GRCh38]
Chr4:187050544..190828225 [GRCh37]
Chr4:187287538..191250527 [NCBI36]
Chr4:4q35.1-35.2		 likely benign|uncertain significance
GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3 copy number gain See cases [RCV000143010] Chr4:180717850..190095391 [GRCh38]
Chr4:181639003..190828225 [GRCh37]
Chr4:181875997..191250527 [NCBI36]
Chr4:4q34.3-35.2		 pathogenic|likely benign
Single allele duplication Autism [RCV000754289] Chr4:185324779..188495308 [GRCh38]
Chr4:4q35.1-35.2		 likely pathogenic
GRCh38/hg38 4q35.2(chr4:187200844-188870692) copy number gain Autism spectrum disorder [RCV003883420] Chr4:187200844..188870692 [GRCh38]
Chr4:4q35.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:56
Count of miRNA genes:55
Interacting mature miRNAs:56
Transcripts:ENST00000509058
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 1
Low 1 1 1 3 1 5 1 1 308 4
Below cutoff 40 40 42 13 31 9 100 31 29 11 85 39 4 21 37

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000509058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4187,370,648 - 187,371,921 (+)Ensembl
RefSeq Acc Id: NR_149103
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384187,370,648 - 187,371,921 (+)NCBI
T2T-CHM13v2.04190,717,917 - 190,719,190 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC LINC02514 COSMIC
Ensembl Genes ENSG00000250042 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000509058 ENTREZGENE
GTEx ENSG00000250042 GTEx
HGNC ID HGNC:53503 ENTREZGENE
Human Proteome Map LINC02514 Human Proteome Map
NCBI Gene LINC02514 ENTREZGENE
RNAcentral URS000008E632 RNACentral