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References
Genomics
miRNA Target Status
Predicted Targets
Summary Value | Count of predictions: | 59922 | Count of gene targets: | 20394 | Count of transcripts: | 49288 | Interacting mature miRNAs: | hsa-miR-6726-3p, hsa-miR-6726-5p | Prediction methods: | Miranda, Rnahybrid, Targetscan | 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 TPMLow: 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 | |||||||||||||||
Low | 130 | 123 | 88 | 15 | 52 | 10 | 234 | 109 | 211 | 7 | 57 | 80 | 5 | 57 | 151 |
Below cutoff | 27 | 82 | 25 | 16 | 10 | 13 | 60 | 94 | 182 | 6 | 8 | 12 | 3 | 11 | 50 |
Sequence
Nucleotide Sequences
RefSeq Transcripts | NR_106784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AL162741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Reference Sequences
RefSeq Acc Id: | ENST00000613751 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NR_106784 | ||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||
Type: | NON-CODING | ||||||||||||||||
Position: |
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Sequence: |
Clinical Variants
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 | copy number gain | See cases [RCV000133658] | Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1 | copy number loss | See cases [RCV000134145] | Chr1:1013081..1722599 [GRCh38] Chr1:948461..1654038 [GRCh37] Chr1:938324..1643898 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 | copy number gain | See cases [RCV000134750] | Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 | copy number loss | See cases [RCV000134211] | Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 | copy number loss | See cases [RCV000134747] | Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 | copy number loss | See cases [RCV000134137] | Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 | copy number loss | See cases [RCV000133943] | Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 | copy number loss | See cases [RCV000134055] | Chr1:844353..2420916 [GRCh38] Chr1:779733..2352355 [GRCh37] Chr1:769596..2342215 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4 | copy number gain | See cases [RCV000134939] | Chr1:932163..1792271 [GRCh38] Chr1:867543..1723710 [GRCh37] Chr1:857406..1713570 [NCBI36] Chr1:1p36.33 |
likely benign |
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 | copy number loss | See cases [RCV000136554] | Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 | copy number loss | See cases [RCV000136715] | Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 | copy number loss | See cases [RCV000136695] | Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 | copy number loss | See cases [RCV000137380] | Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 | copy number loss | See cases [RCV000138225] | Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 | copy number gain | See cases [RCV000138165] | Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32 |
likely pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1 | copy number loss | See cases [RCV000137890] | Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4 | copy number gain | See cases [RCV000137894] | Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32 |
uncertain significance |
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 | copy number loss | See cases [RCV000137978] | Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 | copy number loss | See cases [RCV000138704] | Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 | copy number loss | See cases [RCV000138883] | Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 | copy number loss | See cases [RCV000139404] | Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 | copy number loss | See cases [RCV000138896] | Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 | copy number loss | See cases [RCV000140164] | Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1 | copy number loss | See cases [RCV000139876] | Chr1:821713..2554047 [GRCh38] Chr1:757093..2485486 [GRCh37] Chr1:746956..2479281 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 | copy number loss | See cases [RCV000139780] | Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 | copy number loss | See cases [RCV000141208] | Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 | copy number loss | See cases [RCV000141318] | Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 | copy number loss | See cases [RCV000141227] | Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 | copy number loss | See cases [RCV000141356] | Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 | copy number loss | See cases [RCV000140894] | Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 | copy number loss | See cases [RCV000140709] | Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1 | copy number loss | See cases [RCV000140892] | Chr1:914086..2465738 [GRCh38] Chr1:849466..2397177 [GRCh37] Chr1:839329..2387037 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 | copy number loss | See cases [RCV000141970] | Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 | copy number loss | See cases [RCV000141577] | Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 | copy number loss | See cases [RCV000141668] | Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1 | copy number loss | See cases [RCV000142178] | Chr1:914086..1538895 [GRCh38] Chr1:849466..1474275 [GRCh37] Chr1:839329..1464138 [NCBI36] Chr1:1p36.33 |
likely pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1 | copy number loss | See cases [RCV000142754] | Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic|likely pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 | copy number loss | See cases [RCV000142651] | Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 | copy number loss | See cases [RCV000142615] | Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 | copy number loss | See cases [RCV000142709] | Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1 | copy number loss | See cases [RCV000143224] | Chr1:914086..1613769 [GRCh38] Chr1:849466..1549149 [GRCh37] Chr1:839329..1539012 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 | copy number loss | See cases [RCV000148161] | Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 | copy number gain | See cases [RCV000051779] | Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 | copy number gain | See cases [RCV000051780] | Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] | Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 | copy number loss | See cases [RCV000050857] | Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 | copy number loss | See cases [RCV000050642] | Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 | copy number loss | See cases [RCV000050647] | Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 | copy number loss | See cases [RCV000050882] | Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 | copy number loss | See cases [RCV000051143] | Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 | copy number loss | See cases [RCV000051993] | Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 | copy number loss | See cases [RCV000051994] | Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 | copy number loss | See cases [RCV000051995] | Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 | copy number loss | See cases [RCV000051996] | Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 | copy number loss | See cases [RCV000052014] | Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 | copy number loss | See cases [RCV000052015] | Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|See cases [RCV000052016] | Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 | copy number loss | See cases [RCV000052017] | Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 | copy number loss | See cases [RCV000052018] | Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] | Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] | Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] | Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 | copy number loss | See cases [RCV000052040] | Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|See cases [RCV000052041] | Chr1:844347..2014739 [GRCh38] Chr1:779727..1946178 [GRCh37] Chr1:769590..1936038 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] | Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1 | copy number loss | See cases [RCV000052043] | Chr1:844347..2131805 [GRCh38] Chr1:779727..2063244 [GRCh37] Chr1:769590..2053104 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1 | copy number loss | See cases [RCV000052044] | Chr1:845437..2523513 [GRCh38] Chr1:780817..2454952 [GRCh37] Chr1:770680..2444812 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 | copy number loss | See cases [RCV000052045] | Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 | copy number loss | See cases [RCV000052063] | Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1 | copy number loss | See cases [RCV000052064] | Chr1:872305..2047715 [GRCh38] Chr1:807685..1979154 [GRCh37] Chr1:797548..1969014 [NCBI36] Chr1:1p36.33 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 | copy number loss | See cases [RCV000052065] | Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 | copy number loss | See cases [RCV000052066] | Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 | copy number gain | See cases [RCV000052067] | Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 | copy number loss | See cases [RCV000052068] | Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] | Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1 | copy number loss | See cases [RCV000052070] | Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31 |
pathogenic |
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 | copy number loss | See cases [RCV000050752] | Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32 |
pathogenic |
NC_000001.11:g.(?_1020153)_(1313808_?)del | deletion | Myasthenic syndrome, congenital, 8 [RCV000651427] | Chr1:1020153..1313808 [GRCh38] Chr1:955533..1249188 [GRCh37] Chr1:1p36.33 |
pathogenic |
Additional Information
External Database Links
Database | Acc Id | Source(s) |
COSMIC | MIR6726 | COSMIC |
Ensembl Genes | ENSG00000278073 | Ensembl, ENTREZGENE |
Ensembl Transcript | ENST00000613751 | ENTREZGENE |
GTEx | ENSG00000278073 | GTEx |
HGNC ID | HGNC:50009 | ENTREZGENE |
Human Proteome Map | MIR6726 | Human Proteome Map |
miRBase | MI0022571 | ENTREZGENE |
NCBI Gene | MIR6726 | ENTREZGENE |
RNAcentral | URS000075AD5C | RNACentral |
URS000075C413 | RNACentral | |
URS000075C89D | RNACentral |