Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22994484 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | amyotrophic lateral sclerosis | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:22994484 | |
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# | Reference Title | Reference Citation |
1. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
2. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
PMID:124018 | PMID:1370760 | PMID:1657614 | PMID:1850507 | PMID:2154095 | PMID:2537950 | PMID:2581967 | PMID:2820408 | PMID:2988935 | PMID:3029682 | PMID:3041007 | PMID:6092831 |
PMID:6261785 | PMID:6275256 | PMID:8087846 | PMID:8107144 | PMID:8166633 | PMID:8275493 | PMID:8702753 | PMID:8889548 | PMID:8917096 | PMID:9422699 | PMID:9488668 | PMID:9504932 |
PMID:9525617 | PMID:9644242 | PMID:9660940 | PMID:10066798 | PMID:10827953 | PMID:10871850 | PMID:10882101 | PMID:10995389 | PMID:11031247 | PMID:11046148 | PMID:11087859 | PMID:11087860 |
PMID:11112487 | PMID:11146632 | PMID:11173499 | PMID:11231585 | PMID:11285280 | PMID:11320250 | PMID:11597332 | PMID:11603807 | PMID:11742988 | PMID:11790298 | PMID:11931757 | PMID:11991975 |
PMID:12016299 | PMID:12055595 | PMID:12070128 | PMID:12207904 | PMID:12218189 | PMID:12234927 | PMID:12239347 | PMID:12354939 | PMID:12367500 | PMID:12421820 | PMID:12477932 | PMID:12507430 |
PMID:12593796 | PMID:12609980 | PMID:12610113 | PMID:12682062 | PMID:12787561 | PMID:12791267 | PMID:12820959 | PMID:12853446 | PMID:12857950 | PMID:12871580 | PMID:12883554 | PMID:12893422 |
PMID:12960054 | PMID:14528304 | PMID:14612456 | PMID:14695475 | PMID:14722266 | PMID:14743216 | PMID:14745543 | PMID:14755250 | PMID:14764729 | PMID:15029244 | PMID:15039775 | PMID:15057824 |
PMID:15070733 | PMID:15105460 | PMID:15120077 | PMID:15125833 | PMID:15143060 | PMID:15149598 | PMID:15218035 | PMID:15231748 | PMID:15276183 | PMID:15308666 | PMID:15324660 | PMID:15342556 |
PMID:15452314 | PMID:15466860 | PMID:15469821 | PMID:15469984 | PMID:15489334 | PMID:15694335 | PMID:15721744 | PMID:15761153 | PMID:15781449 | PMID:15826667 | PMID:15885686 | PMID:15886351 |
PMID:15994808 | PMID:16023596 | PMID:16027724 | PMID:16118204 | PMID:16123592 | PMID:16129784 | PMID:16137618 | PMID:16169070 | PMID:16174773 | PMID:16189514 | PMID:16209941 | PMID:16226712 |
PMID:16247449 | PMID:16252010 | PMID:16267042 | PMID:16286470 | PMID:16288044 | PMID:16407252 | PMID:16407834 | PMID:16429130 | PMID:16443603 | PMID:16499958 | PMID:16502470 | PMID:16510124 |
PMID:16543144 | PMID:16581786 | PMID:16625196 | PMID:16630834 | PMID:16651270 | PMID:16701206 | PMID:16712842 | PMID:16763556 | PMID:16775314 | PMID:16808324 | PMID:16874301 | PMID:16904669 |
PMID:16931761 | PMID:16997282 | PMID:17047224 | PMID:17067581 | PMID:17081983 | PMID:17203973 | PMID:17237936 | PMID:17290220 | PMID:17310990 | PMID:17323924 | PMID:17395554 | PMID:17405812 |
PMID:17558393 | PMID:17571083 | PMID:17609272 | PMID:17620599 | PMID:17662948 | PMID:17719541 | PMID:17719543 | PMID:17803915 | PMID:17931355 | PMID:17936559 | PMID:18029035 | PMID:18082604 |
PMID:18313049 | PMID:18596088 | PMID:18719106 | PMID:19190083 | PMID:19193609 | PMID:19214209 | PMID:19516896 | PMID:19608861 | PMID:19738201 | PMID:19754430 | PMID:20205790 | PMID:20491623 |
PMID:20826778 | PMID:20924359 | PMID:21059367 | PMID:21378163 | PMID:21480003 | PMID:21516116 | PMID:21544573 | PMID:21565611 | PMID:21630459 | PMID:21873635 | PMID:22078707 | PMID:22082077 |
PMID:22623428 | PMID:22645313 | PMID:22797007 | PMID:22990118 | PMID:23254330 | PMID:23349634 | PMID:23376485 | PMID:23383273 | PMID:23414517 | PMID:23443559 | PMID:23533145 | PMID:23798571 |
PMID:24022007 | PMID:24039796 | PMID:24318982 | PMID:24367661 | PMID:24457600 | PMID:24660806 | PMID:24751536 | PMID:24981860 | PMID:25147182 | PMID:25204743 | PMID:25281560 | PMID:25416956 |
PMID:25703377 | PMID:25756610 | PMID:25820252 | PMID:25963833 | PMID:26186194 | PMID:26398855 | PMID:26592444 | PMID:26750481 | PMID:26828794 | PMID:27025967 | PMID:27245450 | PMID:27375898 |
PMID:27452404 | PMID:27462432 | PMID:27503909 | PMID:27558965 | PMID:27650958 | PMID:27684187 | PMID:27861798 | PMID:28225217 | PMID:28242625 | PMID:28292943 | PMID:28442575 | PMID:28443643 |
PMID:28506460 | PMID:28514442 | PMID:28786561 | PMID:28945249 | PMID:29111377 | PMID:29122008 | PMID:29130934 | PMID:29471350 | PMID:29845934 | PMID:29859926 | PMID:29995846 | PMID:29997495 |
PMID:30076785 | PMID:30340022 | PMID:30425250 | PMID:30442662 | PMID:30523153 | PMID:30619335 | PMID:30745168 | PMID:30948266 | PMID:31067491 | PMID:31091453 | PMID:31253590 | PMID:31267705 |
PMID:31519766 | PMID:31654319 | PMID:31723608 | PMID:31754404 | PMID:31871319 | PMID:31980649 | PMID:32239614 | PMID:32296183 | PMID:32433965 | PMID:32460013 | PMID:32698014 | PMID:32705536 |
PMID:32751694 | PMID:32812023 | PMID:32814053 | PMID:32814769 | PMID:32877691 | PMID:33080340 | PMID:33134373 | PMID:33144569 | PMID:33306668 | PMID:33499712 | PMID:33892654 | PMID:33903120 |
PMID:33961781 | PMID:34079125 | PMID:34751669 | PMID:34857952 | PMID:35271311 | PMID:36123327 | PMID:36243803 | PMID:36414381 | PMID:36610398 | PMID:36736316 | PMID:36949045 | PMID:37616343 |
PMID:37931956 |
UBB (Homo sapiens - human) |
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Ubb (Mus musculus - house mouse) |
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Ubb (Rattus norvegicus - Norway rat) |
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UBB (Pan paniscus - bonobo/pygmy chimpanzee) |
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UBB (Canis lupus familiaris - dog) |
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Ubb (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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UBB (Sus scrofa - pig) |
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UBB (Chlorocebus sabaeus - green monkey) |
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Ubb (Heterocephalus glaber - naked mole-rat) |
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Variants in UBB
12 total Variants |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1 | copy number loss | See cases [RCV000050513] | Chr17:15776915..18771753 [GRCh38] Chr17:15680229..18675066 [GRCh37] Chr17:15620954..18615791 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1 | copy number loss | See cases [RCV000050602] | Chr17:15898032..20620700 [GRCh38] Chr17:15801346..20524013 [GRCh37] Chr17:15742071..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3 | copy number gain | See cases [RCV000051852] | Chr17:15259164..20925299 [GRCh38] Chr17:15162481..20828612 [GRCh37] Chr17:15103206..20769204 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3 | copy number gain | See cases [RCV000051853] | Chr17:15897832..20620841 [GRCh38] Chr17:15801146..20524154 [GRCh37] Chr17:15741871..20464746 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3 | copy number gain | See cases [RCV000051849] | Chr17:15234685..20620700 [GRCh38] Chr17:15138002..20524013 [GRCh37] Chr17:15078727..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 | copy number gain | See cases [RCV000052476] | Chr17:10892259..17964282 [GRCh38] Chr17:10795576..17867596 [GRCh37] Chr17:10736301..17808321 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1 | copy number loss | See cases [RCV000054329] | Chr17:15952071..18362819 [GRCh38] Chr17:15855385..18266133 [GRCh37] Chr17:15796110..18206858 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1 | copy number loss | See cases [RCV000054330] | Chr17:16060129..20620841 [GRCh38] Chr17:15963443..20524154 [GRCh37] Chr17:15904168..20464746 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1 | copy number loss | See cases [RCV000054333] | Chr17:16117885..18362819 [GRCh38] Chr17:16021199..18266133 [GRCh37] Chr17:15961924..18206858 [NCBI36] Chr17:17p11.2 |
pathogenic |
GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]|See cases [RCV000054335] | Chr17:16361086..18219405 [GRCh38] Chr17:16264400..18122719 [GRCh37] Chr17:16205125..18063444 [NCBI36] Chr17:17p11.2 |
pathogenic |
NM_018955.3(UBB):c.143A>T (p.Lys48Met) | single nucleotide variant | Malignant melanoma [RCV000063147] | Chr17:16382050 [GRCh38] Chr17:16285364 [GRCh37] Chr17:16226089 [NCBI36] Chr17:17p11.2 |
not provided |
NM_018955.3(UBB):c.150G>A (p.Leu50=) | single nucleotide variant | Malignant melanoma [RCV000063148] | Chr17:16382057 [GRCh38] Chr17:16285371 [GRCh37] Chr17:16226096 [NCBI36] Chr17:17p11.2 |
not provided |
NM_018955.3(UBB):c.160C>T (p.Arg54Cys) | single nucleotide variant | Malignant melanoma [RCV000063149] | Chr17:16382067 [GRCh38] Chr17:16285381 [GRCh37] Chr17:16226106 [NCBI36] Chr17:17p11.2 |
not provided |
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3 | copy number gain | See cases [RCV000137171] | Chr17:15210400..18280816 [GRCh38] Chr17:15113717..18184130 [GRCh37] Chr17:15054442..18124855 [NCBI36] Chr17:17p12-11.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1 | copy number loss | See cases [RCV000139510] | Chr17:15883037..20620700 [GRCh38] Chr17:15786351..20524013 [GRCh37] Chr17:15727076..20464605 [NCBI36] Chr17:17p12-11.2 |
pathogenic|likely pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3 | copy number gain | See cases [RCV000141771] | Chr17:15784832..16860143 [GRCh38] Chr17:15688146..16763457 [GRCh37] Chr17:15628871..16704182 [NCBI36] Chr17:17p12-11.2 |
uncertain significance |
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3 | copy number gain | See cases [RCV000142169] | Chr17:15552362..19014200 [GRCh38] Chr17:15455676..18917513 [GRCh37] Chr17:15396401..18858238 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1 | copy number loss | See cases [RCV000143046] | Chr17:15066799..17472457 [GRCh38] Chr17:14970116..17375771 [GRCh37] Chr17:14910841..17316496 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1 | copy number loss | See cases [RCV000143177] | Chr17:15883037..20658018 [GRCh38] Chr17:15786351..20561331 [GRCh37] Chr17:15727076..20501923 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1 | copy number loss | See cases [RCV000143650] | Chr17:15850859..20649235 [GRCh38] Chr17:15754173..20552548 [GRCh37] Chr17:15694898..20493140 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1 | copy number loss | See cases [RCV000143485] | Chr17:15729893..20510251 [GRCh38] Chr17:15633207..20413564 [GRCh37] Chr17:15573932..20354156 [NCBI36] Chr17:17p12-11.2 |
pathogenic |
Single allele | complex | Breast ductal adenocarcinoma [RCV000207129] | Chr17:9586165..16325968 [GRCh37] Chr17:17p13.1-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3 | copy number gain | See cases [RCV000240104] | Chr17:15767020..20261250 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1 | copy number loss | See cases [RCV000447345] | Chr17:10771948..21510992 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1 | copy number loss | See cases [RCV000446498] | Chr17:15745315..20261191 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15688146-16727265)x3 | copy number gain | See cases [RCV000510417] | Chr17:15688146..16727265 [GRCh37] Chr17:17p12-11.2 |
likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) | copy number gain | See cases [RCV000511439] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 | copy number gain | See cases [RCV000512441] | Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 | copy number gain | not provided [RCV000739320] | Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 | copy number gain | not provided [RCV000739325] | Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 | copy number gain | not provided [RCV000739324] | Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3 | copy number gain | not provided [RCV000751941] | Chr17:15796140..20331131 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
NM_018955.4(UBB):c.618C>T (p.Arg206=) | single nucleotide variant | not provided [RCV000881413] | Chr17:16382525 [GRCh38] Chr17:16285839 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_018955.4(UBB):c.585C>T (p.Leu195=) | single nucleotide variant | not provided [RCV000902948] | Chr17:16382492 [GRCh38] Chr17:16285806 [GRCh37] Chr17:17p11.2 |
likely benign |
NC_000017.11:g.(?_16217207)_(16972095_?)dup | duplication | not provided [RCV001032883] | Chr17:16120521..16875409 [GRCh37] Chr17:17p11.2 |
uncertain significance |
NM_018955.4(UBB):c.567C>T (p.Pro189=) | single nucleotide variant | not provided [RCV000903067] | Chr17:16382474 [GRCh38] Chr17:16285788 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_018955.4(UBB):c.27C>T (p.Thr9=) | single nucleotide variant | not provided [RCV000940913] | Chr17:16381934 [GRCh38] Chr17:16285248 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_018955.4(UBB):c.99G>A (p.Lys33=) | single nucleotide variant | not provided [RCV000891548] | Chr17:16382006 [GRCh38] Chr17:16285320 [GRCh37] Chr17:17p11.2 |
likely benign |
NM_018955.4(UBB):c.645A>G (p.Lys215=) | single nucleotide variant | not provided [RCV000893446] | Chr17:16382552 [GRCh38] Chr17:16285866 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p12-11.2(chr17:15599193-16756435)x3 | copy number gain | not provided [RCV000847169] | Chr17:15599193..16756435 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1 | copy number loss | not provided [RCV001006874] | Chr17:15632431..18726389 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15659400-16591180)x1 | copy number loss | not provided [RCV000848863] | Chr17:15659400..16591180 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15722823-16796616)x3 | copy number gain | not provided [RCV000848922] | Chr17:15722823..16796616 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15722839-16763698)x3 | copy number gain | not provided [RCV001006875] | Chr17:15722839..16763698 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15688146-16591261)x3 | copy number gain | not provided [RCV000847058] | Chr17:15688146..16591261 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
NM_018955.4(UBB):c.57C>T (p.Pro19=) | single nucleotide variant | not provided [RCV000889115] | Chr17:16381964 [GRCh38] Chr17:16285278 [GRCh37] Chr17:17p11.2 |
benign |
NM_018955.4(UBB):c.297C>T (p.Ile99=) | single nucleotide variant | not provided [RCV000919339] | Chr17:16382204 [GRCh38] Chr17:16285518 [GRCh37] Chr17:17p11.2 |
likely benign |
GRCh37/hg19 17p12-11.2(chr17:15730101-16591260)x3 | copy number gain | not provided [RCV001006876] | Chr17:15730101..16591260 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1 | copy number loss | not provided [RCV001259296] | Chr17:15810015..18537436 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15688146-16756345)x1 | copy number loss | not provided [RCV001259297] | Chr17:15688146..16756345 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15688146-16769801)x3 | copy number gain | not provided [RCV001259298] | Chr17:15688146..16769801 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
NC_000017.10:g.(?_16120521)_(16875409_?)dup | duplication | not provided [RCV001304726] | Chr17:16120521..16875409 [GRCh37] Chr17:17p11.2 |
uncertain significance |
Single allele | complex | PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690] | Chr17:14876984..22124952 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
Single allele | duplication | not specified [RCV002286369] | Chr17:11915997..17892664 [GRCh38] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)x3 | copy number gain | not provided [RCV002472908] | Chr17:15722840..16653256 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15754174-16657319)x3 | copy number gain | not provided [RCV002475858] | Chr17:15754174..16657319 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
NM_018955.4(UBB):c.539C>T (p.Ala180Val) | single nucleotide variant | Inborn genetic diseases [RCV002925121] | Chr17:16382446 [GRCh38] Chr17:16285760 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3 | copy number gain | not provided [RCV003485144] | Chr17:15633208..16567624 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
GRCh37/hg19 17p11.2(chr17:16193908-16490573)x3 | copy number gain | not provided [RCV003485145] | Chr17:16193908..16490573 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1 | copy number loss | not provided [RCV003483314] | Chr17:15694772..20582794 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1 | copy number loss | not specified [RCV003987246] | Chr17:15759103..20564268 [GRCh37] Chr17:17p12-11.2 |
pathogenic |
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 | copy number gain | not specified [RCV003987215] | Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2 |
pathogenic |
GRCh37/hg19 17p11.2(chr17:16096240-16317075)x3 | copy number gain | not specified [RCV003987248] | Chr17:16096240..16317075 [GRCh37] Chr17:17p11.2 |
uncertain significance |
GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3 | copy number gain | not specified [RCV003987222] | Chr17:15872060..16909718 [GRCh37] Chr17:17p12-11.2 |
uncertain significance |
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. |
STS-X04803 |
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RH66787 |
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D17S1503E |
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GDB:180946 |
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RH1659 |
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D2S1561E |
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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 | visual system | adipose tissue | appendage | entire extraembryonic component | |
High | 112 | 39 | 116 | 71 | 202 | 73 | 123 | 33 | 90 | 108 | 135 | 244 | 8 | 2 | 1 | ||
Medium | 2319 | 2943 | 1606 | 550 | 1741 | 390 | 4229 | 2158 | 3616 | 310 | 1300 | 1360 | 163 | 1202 | 2788 | 3 | |
Low | 2 | 2 | 1 | 2 | 1 | 2 | 3 | 5 | 9 | 4 | 1 | 1 | |||||
Below cutoff | 1 | 2 | 1 | 4 | 1 | 1 | 16 | 1 | 13 | 4 | 3 | 1 |
RefSeq Transcripts | NG_023320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001281716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001281717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001281718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001281719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001281720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_018955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AA659395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB089617 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AC093484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK300882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC000379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC009301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC015127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC026301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC031027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC038999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC046123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG548604 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG718912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM554254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM662083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP307496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT020104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU596366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU661443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB480830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FB775576 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GQ472200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HY014043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X04803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000302182 ⟹ ENSP00000304697 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000395837 ⟹ ENSP00000379178 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000395839 ⟹ ENSP00000379180 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000535788 ⟹ ENSP00000437475 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000577640 ⟹ ENSP00000463156 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000577958 ⟹ ENSP00000464594 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000578649 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000578706 ⟹ ENSP00000464510 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000614404 ⟹ ENSP00000478771 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001281716 ⟹ NP_001268645 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001281717 ⟹ NP_001268646 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001281718 ⟹ NP_001268647 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001281719 ⟹ NP_001268648 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001281720 ⟹ NP_001268649 | ||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_018955 ⟹ NP_061828 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001268645 | (Get FASTA) | NCBI Sequence Viewer |
NP_001268646 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001268647 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001268648 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001268649 | (Get FASTA) | NCBI Sequence Viewer | |
NP_061828 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH00379 | (Get FASTA) | NCBI Sequence Viewer |
AAH09301 | (Get FASTA) | NCBI Sequence Viewer | |
AAH15127 | (Get FASTA) | NCBI Sequence Viewer | |
AAH26301 | (Get FASTA) | NCBI Sequence Viewer | |
AAH31027 | (Get FASTA) | NCBI Sequence Viewer | |
AAH38999 | (Get FASTA) | NCBI Sequence Viewer | |
AAH46123 | (Get FASTA) | NCBI Sequence Viewer | |
AAV38907 | (Get FASTA) | NCBI Sequence Viewer | |
ACV87175 | (Get FASTA) | NCBI Sequence Viewer | |
BAC56955 | (Get FASTA) | NCBI Sequence Viewer | |
BAG62524 | (Get FASTA) | NCBI Sequence Viewer | |
CAA28495 | (Get FASTA) | NCBI Sequence Viewer | |
CAV30745 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04501 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04502 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04503 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04504 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04505 | (Get FASTA) | NCBI Sequence Viewer | |
EAX04506 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000304697 | ||
ENSP00000304697.3 | |||
ENSP00000379178 | |||
ENSP00000379178.1 | |||
ENSP00000379180 | |||
ENSP00000379180.1 | |||
ENSP00000437475.1 | |||
ENSP00000463156 | |||
ENSP00000463156.1 | |||
ENSP00000464510.1 | |||
ENSP00000464594.1 | |||
ENSP00000478771 | |||
ENSP00000478771.1 | |||
GenBank Protein | P0CG47 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_061828 ⟸ NM_018955 |
- Peptide Label: | precursor |
- UniProtKB: | P0CG47 (UniProtKB/Swiss-Prot), Q5U5U6 (UniProtKB/TrEMBL), Q9UFQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001268645 ⟸ NM_001281716 |
- Peptide Label: | precursor |
- UniProtKB: | P0CG47 (UniProtKB/Swiss-Prot), Q5U5U6 (UniProtKB/TrEMBL), Q9UFQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001268649 ⟸ NM_001281720 |
- Peptide Label: | precursor |
- UniProtKB: | P0CG47 (UniProtKB/Swiss-Prot), Q5U5U6 (UniProtKB/TrEMBL), Q9UFQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001268648 ⟸ NM_001281719 |
- Peptide Label: | precursor |
- UniProtKB: | P0CG47 (UniProtKB/Swiss-Prot), Q5U5U6 (UniProtKB/TrEMBL), Q9UFQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001268647 ⟸ NM_001281718 |
- Peptide Label: | precursor |
- UniProtKB: | P0CG47 (UniProtKB/Swiss-Prot), Q5U5U6 (UniProtKB/TrEMBL), Q9UFQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001268646 ⟸ NM_001281717 |
- Peptide Label: | precursor |
- UniProtKB: | P0CG47 (UniProtKB/Swiss-Prot), Q5U5U6 (UniProtKB/TrEMBL), Q9UFQ0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSP00000437475 ⟸ ENST00000535788 |
RefSeq Acc Id: | ENSP00000478771 ⟸ ENST00000614404 |
RefSeq Acc Id: | ENSP00000463156 ⟸ ENST00000577640 |
RefSeq Acc Id: | ENSP00000464594 ⟸ ENST00000577958 |
RefSeq Acc Id: | ENSP00000464510 ⟸ ENST00000578706 |
RefSeq Acc Id: | ENSP00000304697 ⟸ ENST00000302182 |
RefSeq Acc Id: | ENSP00000379180 ⟸ ENST00000395839 |
RefSeq Acc Id: | ENSP00000379178 ⟸ ENST00000395837 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P0CG47-F1-model_v2 | AlphaFold | P0CG47 | 1-229 | view protein structure |
RGD ID: | 6794671 | ||||||||
Promoter ID: | HG_KWN:25127 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | ENST00000395837, ENST00000395839, OTTHUMT00000130458, UC010CPC.1 | ||||||||
Position: |
|
RGD ID: | 6853604 | ||||||||
Promoter ID: | EP15055 | ||||||||
Type: | single initiation site | ||||||||
Name: | HS_UBB | ||||||||
Description: | Ubiquitin B. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | DNA sequencing of a full-length processed pseudogene | ||||||||
Regulation: | housekeeping gene; (induced by or strongly expressed in) heat shock | ||||||||
Position: |
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RGD ID: | 7234117 | ||||||||
Promoter ID: | EPDNEW_H22804 | ||||||||
Type: | initiation region | ||||||||
Name: | UBB_2 | ||||||||
Description: | ubiquitin B | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22805 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7234119 | ||||||||
Promoter ID: | EPDNEW_H22805 | ||||||||
Type: | initiation region | ||||||||
Name: | UBB_1 | ||||||||
Description: | ubiquitin B | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H22804 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:12463 | AgrOrtholog |
COSMIC | UBB | COSMIC |
Ensembl Genes | ENSG00000170315 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000302182 | ENTREZGENE |
ENST00000302182.8 | UniProtKB/Swiss-Prot | |
ENST00000395837 | ENTREZGENE | |
ENST00000395837.1 | UniProtKB/Swiss-Prot | |
ENST00000395839 | ENTREZGENE | |
ENST00000395839.5 | UniProtKB/Swiss-Prot | |
ENST00000535788.1 | UniProtKB/TrEMBL | |
ENST00000577640 | ENTREZGENE | |
ENST00000577640.1 | UniProtKB/TrEMBL | |
ENST00000577958.1 | UniProtKB/TrEMBL | |
ENST00000578706.5 | UniProtKB/TrEMBL | |
ENST00000614404 | ENTREZGENE | |
ENST00000614404.1 | UniProtKB/Swiss-Prot | |
GTEx | ENSG00000170315 | GTEx |
HGNC ID | HGNC:12463 | ENTREZGENE |
Human Proteome Map | UBB | Human Proteome Map |
InterPro | Ubiquitin | UniProtKB/Swiss-Prot |
Ubiquitin-like_dom | UniProtKB/TrEMBL | |
Ubiquitin-like_domsf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ubiquitin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Ubiquitin_dom | UniProtKB/Swiss-Prot | |
Ubiquitin_dom | UniProtKB/TrEMBL | |
KEGG Report | hsa:7314 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
NCBI Gene | 7314 | ENTREZGENE |
OMIM | 191339 | OMIM |
PANTHER | UBIQUITIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UBIQUITIN-60S RIBOSOMAL PROTEIN L40 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UBIQUITIN-LIKE DOMAIN-CONTAINING PROTEIN | UniProtKB/TrEMBL | |
Pfam | ubiquitin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PharmGKB | PA37113 | PharmGKB |
PRINTS | UBIQUITIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | UBIQUITIN_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UBIQUITIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SMART | UBQ | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF54236 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | B4DV12_HUMAN | UniProtKB/TrEMBL |
J3QKN0_HUMAN | UniProtKB/TrEMBL | |
J3QS39_HUMAN | UniProtKB/TrEMBL | |
J3QSA3_HUMAN | UniProtKB/TrEMBL | |
P0CG47 | ENTREZGENE | |
Q5U5U6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9UFQ0 | ENTREZGENE, UniProtKB/TrEMBL | |
UBB_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | P02248 | UniProtKB/Swiss-Prot |
P02249 | UniProtKB/Swiss-Prot | |
P02250 | UniProtKB/Swiss-Prot | |
P62988 | UniProtKB/Swiss-Prot | |
Q29120 | UniProtKB/Swiss-Prot | |
Q6LBL4 | UniProtKB/Swiss-Prot | |
Q6LDU5 | UniProtKB/Swiss-Prot | |
Q8WYN8 | UniProtKB/Swiss-Prot | |
Q91887 | UniProtKB/Swiss-Prot | |
Q91888 | UniProtKB/Swiss-Prot | |
Q9BWD6 | UniProtKB/Swiss-Prot | |
Q9BX98 | UniProtKB/Swiss-Prot | |
Q9UEF2 | UniProtKB/Swiss-Prot | |
Q9UEG1 | UniProtKB/Swiss-Prot | |
Q9UEK8 | UniProtKB/Swiss-Prot | |
Q9UPK7 | UniProtKB/Swiss-Prot |