Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | HOTTIP | Human | congestive heart failure | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:36071497 | |
|
Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | HOTTIP | Human | congestive heart failure | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:36071497 | |
|
|
# | Reference Title | Reference Citation |
1. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:14702039 | PMID:21423168 | PMID:21483457 | PMID:24018042 | PMID:24114970 | PMID:24342142 | PMID:24381249 | PMID:24910706 | PMID:25424744 | PMID:25889214 | PMID:25912306 | PMID:26043692 |
PMID:26058875 | PMID:26265284 | PMID:26617868 | PMID:26617875 | PMID:26678886 | PMID:26710269 | PMID:27064878 | PMID:27103834 | PMID:27108607 | PMID:27144338 | PMID:27347311 | PMID:27733185 |
PMID:27748754 | PMID:27806322 | PMID:27806342 | PMID:28036281 | PMID:28164688 | PMID:28384324 | PMID:28484075 | PMID:28534516 | PMID:28778381 | PMID:28781799 | PMID:28782268 | PMID:28818070 |
PMID:28886531 | PMID:28938659 | PMID:28947139 | PMID:29039502 | PMID:29041935 | PMID:29058802 | PMID:29221115 | PMID:29272003 | PMID:29274585 | PMID:29329159 | PMID:29367594 | PMID:29415429 |
PMID:29474928 | PMID:29698677 | PMID:29884766 | PMID:29917176 | PMID:30021349 | PMID:30024606 | PMID:30226576 | PMID:30229808 | PMID:30452402 | PMID:30511250 | PMID:30676763 | PMID:30685769 |
PMID:30809864 | PMID:30819158 | PMID:30882398 | PMID:30940774 | PMID:30993787 | PMID:31002141 | PMID:31251124 | PMID:31328440 | PMID:31422060 | PMID:31533774 | PMID:31570281 | PMID:31786140 |
PMID:31910357 | PMID:32067741 | PMID:32081664 | PMID:32120024 | PMID:32307830 | PMID:32335029 | PMID:32442909 | PMID:32539564 | PMID:32725141 | PMID:32783402 | PMID:33000231 | PMID:33028884 |
PMID:33435956 | PMID:33475442 | PMID:33504462 | PMID:33710684 | PMID:33784880 | PMID:34069089 | PMID:34212978 | PMID:34268972 | PMID:35110549 | PMID:35180428 | PMID:35210436 | PMID:35644412 |
PMID:35921152 | PMID:36438902 | PMID:36482051 | PMID:37392284 |
HOTTIP (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hottip (Mus musculus - house mouse) |
|
.
Variants in HOTTIP
10 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 | copy number gain | See cases [RCV000051159] | Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
GRCh38/hg38 7p15.2(chr7:27154807-27422335)x1 | copy number loss | See cases [RCV000052313] | Chr7:27154807..27422335 [GRCh38] Chr7:27194426..27461954 [GRCh37] Chr7:27160951..27428479 [NCBI36] Chr7:7p15.2 |
pathogenic |
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 | copy number loss | See cases [RCV000052310] | Chr7:25511691..30421133 [GRCh38] Chr7:25551310..30460749 [GRCh37] Chr7:25517835..30427274 [NCBI36] Chr7:7p15.2-14.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 | copy number loss | See cases [RCV000052250] | Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p15.2(chr7:27107301-27314586)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053436]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053436]|See cases [RCV000053436] | Chr7:27107301..27314586 [GRCh38] Chr7:27146920..27354205 [GRCh37] Chr7:27113445..27320730 [NCBI36] Chr7:7p15.2 |
uncertain significance |
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 | copy number gain | See cases [RCV000053530] | Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 | copy number loss | See cases [RCV000134333] | Chr7:20210912..27849400 [GRCh38] Chr7:20250535..27889019 [GRCh37] Chr7:20217060..27855544 [NCBI36] Chr7:7p21.1-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 | copy number loss | See cases [RCV000135401] | Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 | copy number loss | See cases [RCV000136775] | Chr7:20561456..32005143 [GRCh38] Chr7:20601079..32044755 [GRCh37] Chr7:20567604..32011280 [NCBI36] Chr7:7p21.1-14.3 |
pathogenic |
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 | copy number gain | See cases [RCV000136649] | Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 | copy number gain | See cases [RCV000143060] | Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 | copy number loss | See cases [RCV000240125] | Chr7:22935369..32621975 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 | copy number loss | See cases [RCV000446044] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
TMEM106B-BRAF fusion | deletion | Pleomorphic xanthoastrocytoma [RCV000454357] | Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 | copy number gain | See cases [RCV000446478] | Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2 |
pathogenic |
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3 | copy number gain | See cases [RCV000447735] | Chr7:25448425..27578387 [GRCh37] Chr7:7p15.3-15.2 |
likely pathogenic |
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 | copy number gain | See cases [RCV000512091] | Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1 |
pathogenic |
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 | copy number gain | See cases [RCV000510275] | Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3 |
pathogenic |
GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1 | copy number loss | See cases [RCV000510695] | Chr7:24344104..28879357 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) | copy number gain | See cases [RCV000510686] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 | copy number gain | See cases [RCV000511549] | Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | Childhood apraxia of speech [RCV000234948] | Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 | copy number gain | not provided [RCV000746280] | Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 | copy number gain | not provided [RCV000746278] | Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p15.2(chr7:27026872-27322106)x3 | copy number gain | not provided [RCV000746569] | Chr7:27026872..27322106 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27065705-27286796)x1 | copy number loss | not provided [RCV000746570] | Chr7:27065705..27286796 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27089764-27322106)x3 | copy number gain | not provided [RCV000746571] | Chr7:27089764..27322106 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27118974-27264337)x3 | copy number gain | not provided [RCV000746572] | Chr7:27118974..27264337 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27118974-27286796)x3 | copy number gain | not provided [RCV000746573] | Chr7:27118974..27286796 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27123880-27286796)x1 | copy number loss | not provided [RCV000746574] | Chr7:27123880..27286796 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27130276-27286796)x3 | copy number gain | not provided [RCV000746575] | Chr7:27130276..27286796 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27135314-27264337)x3 | copy number gain | not provided [RCV000746576] | Chr7:27135314..27264337 [GRCh37] Chr7:7p15.2 |
benign |
GRCh37/hg19 7p15.2(chr7:27135314-27286796)x3 | copy number gain | not provided [RCV000746577] | Chr7:27135314..27286796 [GRCh37] Chr7:7p15.2 |
benign |
NC_000007.13:g.23236782_30690453del7453672 | deletion | Silver Russell Syndrome-related disorder [RCV000785664] | Chr7:23236782..30690453 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 | copy number loss | not provided [RCV001005924] | Chr7:23877135..33139446 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 | copy number gain | not provided [RCV000848126] | Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) | copy number gain | not specified [RCV002053668] | Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2 |
likely pathogenic |
Single allele | complex | Ring chromosome 7 [RCV002280646] | Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) | copy number loss | Cyclical vomiting syndrome [RCV002280775] | Chr7:25451740..33864069 [GRCh37] Chr7:7p15.3-14.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 | copy number loss | See cases [RCV002287832] | Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
GRCh37/hg19 7p15.2-15.1(chr7:26418391-28323299)x3 | copy number gain | not provided [RCV002474593] | Chr7:26418391..28323299 [GRCh37] Chr7:7p15.2-15.1 |
uncertain significance |
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 | copy number loss | not provided [RCV002475752] | Chr7:27133786..34466477 [GRCh37] Chr7:7p15.2-14.3 |
pathogenic |
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 | copy number loss | not specified [RCV003986712] | Chr7:17736012..30663423 [GRCh37] Chr7:7p21.1-14.3 |
pathogenic |
GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1 | copy number loss | not specified [RCV003986690] | Chr7:13107394..27514163 [GRCh37] Chr7:7p21.3-15.2 |
pathogenic |
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. |
ECD02701 |
|
|||||||||||||||||||||||||||||||||||
ECD04307 |
|
|||||||||||||||||||||||||||||||||||
ECD04443 |
|
|||||||||||||||||||||||||||||||||||
ECD05107 |
|
|||||||||||||||||||||||||||||||||||
REN100771 |
|
|||||||||||||||||||||||||||||||||||
REN100773 |
|
|||||||||||||||||||||||||||||||||||
REN100774 |
|
|||||||||||||||||||||||||||||||||||
REN100775 |
|
|||||||||||||||||||||||||||||||||||
REN100776 |
|
|||||||||||||||||||||||||||||||||||
REN100777 |
|
|||||||||||||||||||||||||||||||||||
REN100778 |
|
|||||||||||||||||||||||||||||||||||
REN100779 |
|
|||||||||||||||||||||||||||||||||||
REN100780 |
|
|||||||||||||||||||||||||||||||||||
REN100781 |
|
|||||||||||||||||||||||||||||||||||
REN100782 |
|
|||||||||||||||||||||||||||||||||||
stSG609402 |
|
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 | entire extraembryonic component | |
High | ||||||||||||||||
Medium | 194 | 2 | 2 | 5 | 2 | 1 | 7 | 160 | ||||||||
Low | 427 | 1 | 45 | 43 | 50 | 46 | 5 | 4 | 5 | 46 | 357 | 40 | 1 | 2 | ||
Below cutoff | 702 | 809 | 460 | 128 | 354 | 87 | 2993 | 862 | 929 | 88 | 596 | 347 | 47 | 649 | 2033 | 1 |
RefSeq Transcripts | NR_037843 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AC004080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK093987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH236948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU724873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA988803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OA988804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000421733 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000472494 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000521028 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENST00000605136 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NR_037843 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | NON-CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
RGD ID: | 15096118 | ||||||||
Promoter ID: | EPDNEWNC_H956 | ||||||||
Type: | initiation region | ||||||||
Name: | HOTTIP_1 | ||||||||
Description: | HOXA distal transcript antisense RNA [Source:HGNCSymbol;Acc:HGNC:37461] | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:37461 | AgrOrtholog |
COSMIC | HOTTIP | COSMIC |
Ensembl Genes | ENSG00000243766 | Ensembl |
GTEx | ENSG00000243766 | GTEx |
HGNC ID | HGNC:37461 | ENTREZGENE |
Human Proteome Map | HOTTIP | Human Proteome Map |
NCBI Gene | 100316868 | ENTREZGENE |
OMIM | 614060 | OMIM |
PharmGKB | PA165618182 | PharmGKB |
RNAcentral | URS000075E1E7 | RNACentral |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2012-08-21 | HOTTIP | HOXA distal transcript antisense RNA | HOTTIP | HOXA distal transcript antisense RNA (non-protein coding) | Symbol and/or name change | 5135510 | APPROVED |
2011-07-27 | HOTTIP | HOXA distal transcript antisense RNA (non-protein coding) | NCRNA00213 | non-protein coding RNA 213 | Symbol and/or name change | 5135510 | APPROVED |