ATXN7L1 (ataxin 7 like 1) - Rat Genome Database

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Gene: ATXN7L1 (ataxin 7 like 1) Homo sapiens
Analyze
Symbol: ATXN7L1
Name: ataxin 7 like 1
RGD ID: 1345348
HGNC Page HGNC:22210
Description: ASSOCIATED WITH Pleomorphic xanthoastrocytoma; pleomorphic xanthoastrocytoma; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2,3,7,8-tetrachlorodibenzodioxine; 3-isobutyl-1-methyl-7H-xanthine
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ataxin 7-like 1; ataxin 7-like 4; ataxin-7-like protein 1; ataxin-7-like protein 4; ATXN7L4; MGC33190
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387105,604,772 - 105,876,599 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7105,604,772 - 105,876,599 (-)EnsemblGRCh38hg38GRCh38
GRCh377105,245,219 - 105,517,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367105,188,055 - 105,304,264 (-)NCBINCBI36Build 36hg18NCBI36
Build 347104,994,769 - 105,110,979NCBI
Celera7100,050,314 - 100,322,052 (-)NCBICelera
Cytogenetic Map7q22.3NCBI
HuRef799,603,460 - 99,874,805 (-)NCBIHuRef
CHM1_17105,178,559 - 105,450,676 (-)NCBICHM1_1
T2T-CHM13v2.07106,918,950 - 107,191,449 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574462   PMID:12421765   PMID:12477932   PMID:12690205   PMID:14702039   PMID:15115762   PMID:15342556   PMID:15489334   PMID:17207965   PMID:22881374   PMID:23064961   PMID:23251661  
PMID:24104479   PMID:24981860   PMID:25416956   PMID:26186194   PMID:28514442   PMID:28611215   PMID:30021884   PMID:31391242   PMID:31753913   PMID:32296183   PMID:32814053   PMID:33961781  
PMID:35140242   PMID:35271311   PMID:37071664   PMID:37682711  


Genomics

Comparative Map Data
ATXN7L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387105,604,772 - 105,876,599 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7105,604,772 - 105,876,599 (-)EnsemblGRCh38hg38GRCh38
GRCh377105,245,219 - 105,517,045 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367105,188,055 - 105,304,264 (-)NCBINCBI36Build 36hg18NCBI36
Build 347104,994,769 - 105,110,979NCBI
Celera7100,050,314 - 100,322,052 (-)NCBICelera
Cytogenetic Map7q22.3NCBI
HuRef799,603,460 - 99,874,805 (-)NCBIHuRef
CHM1_17105,178,559 - 105,450,676 (-)NCBICHM1_1
T2T-CHM13v2.07106,918,950 - 107,191,449 (-)NCBIT2T-CHM13v2.0
Atxn7l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391233,196,967 - 33,426,407 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1233,197,692 - 33,423,184 (+)EnsemblGRCm39 Ensembl
GRCm381233,146,968 - 33,376,408 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1233,147,693 - 33,373,185 (+)EnsemblGRCm38mm10GRCm38
MGSCv371233,832,551 - 34,053,142 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361233,887,798 - 33,953,520 (+)NCBIMGSCv36mm8
Celera1234,597,134 - 34,812,636 (+)NCBICelera
Cytogenetic Map12A3NCBI
cM Map1214.03NCBI
Atxn7l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8655,487,309 - 55,709,751 (+)NCBIGRCr8
mRatBN7.2649,759,876 - 49,982,323 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl649,759,883 - 49,982,320 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0652,459,930 - 52,680,552 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl652,459,946 - 52,675,574 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0662,083,357 - 62,302,011 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.1651,491,170 - 51,596,750 (+)NCBI
Celera648,950,501 - 49,171,867 (+)NCBICelera
Cytogenetic Map6q16NCBI
Atxn7l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541010,167,187 - 10,226,155 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541010,167,196 - 10,391,362 (-)NCBIChiLan1.0ChiLan1.0
ATXN7L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26142,455,632 - 142,722,059 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan17190,720,280 - 190,992,018 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0797,594,803 - 97,861,463 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17110,325,150 - 110,590,054 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7110,327,942 - 110,590,021 (-)Ensemblpanpan1.1panPan2
ATXN7L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11814,661,497 - 14,821,041 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1814,661,497 - 14,816,575 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1814,227,049 - 14,472,079 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01814,877,168 - 15,123,147 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1814,854,414 - 15,118,685 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11814,664,576 - 14,909,495 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01814,586,766 - 14,832,518 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01814,867,138 - 15,112,465 (+)NCBIUU_Cfam_GSD_1.0
Atxn7l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511856,926,069 - 57,163,401 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647918,049,847 - 18,287,213 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647918,049,860 - 18,287,175 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ATXN7L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl9105,464,484 - 105,799,064 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.19105,464,614 - 105,925,637 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.29116,232,446 - 116,608,014 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ATXN7L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12174,525,581 - 74,796,167 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2174,525,184 - 74,796,133 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604229,115,143 - 29,390,520 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Atxn7l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473923,930,133 - 23,973,480 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473923,754,290 - 23,976,754 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ATXN7L1
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
NM_020725.1(ATXN7L1):c.2473-308G>T single nucleotide variant Lung cancer [RCV000097376] Chr7:105610911 [GRCh38]
Chr7:105251358 [GRCh37]
Chr7:7q22.3		 uncertain significance
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
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 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 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_020725.2(ATXN7L1):c.208G>C (p.Glu70Gln) single nucleotide variant not specified [RCV004305996] Chr7:105875854 [GRCh38]
Chr7:105516300 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1229G>T (p.Ser410Ile) single nucleotide variant not specified [RCV004133269] Chr7:105624241 [GRCh38]
Chr7:105264688 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31		 pathogenic
NC_000007.13:g.(?_104456677)_(108155935_?)del deletion not provided [RCV003107618] Chr7:104456677..108155935 [GRCh37]
Chr7:7q22.2-31.1		 pathogenic
GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1 copy number loss See cases [RCV000142628] Chr7:105575647..107949294 [GRCh38]
Chr7:105216094..107589739 [GRCh37]
Chr7:105003330..107376975 [NCBI36]
Chr7:7q22.3-31.1		 uncertain significance
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
NM_020725.2(ATXN7L1):c.2179G>A (p.Ala727Thr) single nucleotide variant not specified [RCV004140235] Chr7:105614155 [GRCh38]
Chr7:105254602 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 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
NM_020725.2(ATXN7L1):c.302T>C (p.Val101Ala) single nucleotide variant not specified [RCV004685645] Chr7:105788657 [GRCh38]
Chr7:105429103 [GRCh37]
Chr7:7q22.3		 uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 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(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_020725.2(ATXN7L1):c.986A>T (p.Lys329Ile) single nucleotide variant not specified [RCV004421233] Chr7:105638569 [GRCh38]
Chr7:105279016 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1081A>G (p.Ile361Val) single nucleotide variant not specified [RCV004102556] Chr7:105638474 [GRCh38]
Chr7:105278921 [GRCh37]
Chr7:7q22.3		 likely benign
NM_020725.2(ATXN7L1):c.1893C>A (p.Asp631Glu) single nucleotide variant not specified [RCV004107221] Chr7:105614441 [GRCh38]
Chr7:105254888 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308) copy number loss not specified [RCV002053711] Chr7:99417471..111586308 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
GRCh38/hg38 7q22.2-22.3(chr7:104434729-106134635)x3 copy number gain See cases [RCV000140728] Chr7:104434729..106134635 [GRCh38]
Chr7:104075177..105775081 [GRCh37]
Chr7:103862413..105562317 [NCBI36]
Chr7:7q22.2-22.3		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_020725.2(ATXN7L1):c.1909G>A (p.Asp637Asn) single nucleotide variant not specified [RCV004421222] Chr7:105614425 [GRCh38]
Chr7:105254872 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2104A>C (p.Asn702His) single nucleotide variant not specified [RCV004421223] Chr7:105614230 [GRCh38]
Chr7:105254677 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2392A>G (p.Met798Val) single nucleotide variant not specified [RCV004327618] Chr7:105613942 [GRCh38]
Chr7:105254389 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.281A>G (p.His94Arg) single nucleotide variant not specified [RCV004342196] Chr7:105788678 [GRCh38]
Chr7:105429124 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1712C>T (p.Ser571Leu) single nucleotide variant not specified [RCV004688798] Chr7:105614622 [GRCh38]
Chr7:105255069 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.422C>T (p.Thr141Ile) single nucleotide variant not specified [RCV004293058] Chr7:105665222 [GRCh38]
Chr7:105305669 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2424C>A (p.Ser808Arg) single nucleotide variant not specified [RCV004294231] Chr7:105613910 [GRCh38]
Chr7:105254357 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160) copy number loss not specified [RCV002053712] Chr7:100676872..119156160 [GRCh37]
Chr7:7q22.1-31.31		 pathogenic
GRCh37/hg19 7q22.3-31.1(chr7:104536649-109624996)x1 copy number loss not provided [RCV003482977] Chr7:104536649..109624996 [GRCh37]
Chr7:7q22.3-31.1		 pathogenic
NM_020725.2(ATXN7L1):c.1427G>A (p.Arg476Gln) single nucleotide variant not specified [RCV004421218] Chr7:105620290 [GRCh38]
Chr7:105260737 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2162C>T (p.Ser721Leu) single nucleotide variant not specified [RCV004421224] Chr7:105614172 [GRCh38]
Chr7:105254619 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2268C>A (p.Asp756Glu) single nucleotide variant not specified [RCV004421225] Chr7:105614066 [GRCh38]
Chr7:105254513 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.3(chr7:104696686-105407628) copy number loss O'Donnell-Luria-Rodan syndrome [RCV001420180] Chr7:104696686..105407628 [GRCh37]
Chr7:7q22.3		 pathogenic
NM_020725.2(ATXN7L1):c.2204C>T (p.Ala735Val) single nucleotide variant not specified [RCV004255071] Chr7:105614130 [GRCh38]
Chr7:105254577 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1667A>G (p.Tyr556Cys) single nucleotide variant not specified [RCV004157634] Chr7:105614667 [GRCh38]
Chr7:105255114 [GRCh37]
Chr7:7q22.3		 uncertain significance
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
NM_020725.2(ATXN7L1):c.1817C>T (p.Pro606Leu) single nucleotide variant not specified [RCV004227772] Chr7:105614517 [GRCh38]
Chr7:105254964 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.992A>G (p.Gln331Arg) single nucleotide variant not specified [RCV004300683] Chr7:105638563 [GRCh38]
Chr7:105279010 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.899T>C (p.Leu300Ser) single nucleotide variant not specified [RCV004304577] Chr7:105639533 [GRCh38]
Chr7:105279980 [GRCh37]
Chr7:7q22.3		 uncertain significance
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
NM_020725.2(ATXN7L1):c.2257C>T (p.His753Tyr) single nucleotide variant not specified [RCV004155506] Chr7:105614077 [GRCh38]
Chr7:105254524 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1043T>C (p.Val348Ala) single nucleotide variant not specified [RCV004105427] Chr7:105638512 [GRCh38]
Chr7:105278959 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1339G>A (p.Asp447Asn) single nucleotide variant not specified [RCV004421216] Chr7:105624131 [GRCh38]
Chr7:105264578 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.703G>A (p.Val235Ile) single nucleotide variant not specified [RCV004421232] Chr7:105642997 [GRCh38]
Chr7:105283444 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1001T>C (p.Leu334Pro) single nucleotide variant not specified [RCV004159419] Chr7:105638554 [GRCh38]
Chr7:105279001 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.905C>G (p.Pro302Arg) single nucleotide variant not specified [RCV004095901] Chr7:105639527 [GRCh38]
Chr7:105279974 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.1-22.3(chr7:103679146-105547471) copy number loss See cases [RCV000993744] Chr7:103679146..105547471 [GRCh37]
Chr7:7q22.1-22.3		 likely pathogenic
NC_000007.13:g.(?_102937907)_(107643330_?)dup duplication not provided [RCV003113939] Chr7:102937907..107643330 [GRCh37]
Chr7:7q22.1-31.1		 uncertain significance
NM_020725.2(ATXN7L1):c.2492T>C (p.Leu831Pro) single nucleotide variant not specified [RCV004260819] Chr7:105610584 [GRCh38]
Chr7:105251031 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1 copy number loss See cases [RCV000050924] Chr7:101807149..112414850 [GRCh38]
Chr7:101450429..112054905 [GRCh37]
Chr7:101237149..111842141 [NCBI36]
Chr7:7q22.1-31.1		 pathogenic
NM_020725.2(ATXN7L1):c.1460G>A (p.Arg487His) single nucleotide variant not specified [RCV004599494] Chr7:105620257 [GRCh38]
Chr7:105260704 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1 copy number loss See cases [RCV000054157] Chr7:102808199..105701108 [GRCh38]
Chr7:102448646..105341555 [GRCh37]
Chr7:102235882..105128791 [NCBI36]
Chr7:7q22.1-22.3		 pathogenic
NM_020725.2(ATXN7L1):c.619C>G (p.Leu207Val) single nucleotide variant not specified [RCV004421229] Chr7:105643081 [GRCh38]
Chr7:105283528 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.811A>C (p.Lys271Gln) single nucleotide variant not specified [RCV004091253] Chr7:105642889 [GRCh38]
Chr7:105283336 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2416C>T (p.Pro806Ser) single nucleotide variant not specified [RCV004347534] Chr7:105613918 [GRCh38]
Chr7:105254365 [GRCh37]
Chr7:7q22.3		 uncertain significance
NC_000007.13:g.(?_102937907)_(108155935_?)del deletion not provided [RCV004583601] Chr7:102937907..108155935 [GRCh37]
Chr7:7q22.1-31.1		 pathogenic
NM_020725.2(ATXN7L1):c.1055A>C (p.Glu352Ala) single nucleotide variant not specified [RCV004421215] Chr7:105638500 [GRCh38]
Chr7:105278947 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.164A>G (p.Lys55Arg) single nucleotide variant not specified [RCV004421221] Chr7:105876395 [GRCh38]
Chr7:105516841 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.641A>G (p.Asn214Ser) single nucleotide variant not specified [RCV004421230] Chr7:105643059 [GRCh38]
Chr7:105283506 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.654C>A (p.Asn218Lys) single nucleotide variant not specified [RCV004421231] Chr7:105643046 [GRCh38]
Chr7:105283493 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.835A>G (p.Ser279Gly) single nucleotide variant not specified [RCV004349008] Chr7:105642865 [GRCh38]
Chr7:105283312 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1244A>G (p.Asn415Ser) single nucleotide variant not specified [RCV004123942] Chr7:105624226 [GRCh38]
Chr7:105264673 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.1-22.3(chr7:103354482-105407628) copy number loss See cases [RCV000993742] Chr7:103354482..105407628 [GRCh37]
Chr7:7q22.1-22.3		 likely pathogenic
GRCh37/hg19 7q22.3-31.1(chr7:104506008-107408857) copy number loss See cases [RCV000993745] Chr7:104506008..107408857 [GRCh37]
Chr7:7q22.3-31.1		 pathogenic
NM_020725.2(ATXN7L1):c.617A>G (p.Asn206Ser) single nucleotide variant not specified [RCV004105870] Chr7:105643083 [GRCh38]
Chr7:105283530 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1564C>T (p.His522Tyr) single nucleotide variant not specified [RCV004421220] Chr7:105614770 [GRCh38]
Chr7:105255217 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.2543G>A (p.Arg848Gln) single nucleotide variant not specified [RCV004421226] Chr7:105610533 [GRCh38]
Chr7:105250980 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.500C>T (p.Thr167Met) single nucleotide variant not specified [RCV004421227] Chr7:105665144 [GRCh38]
Chr7:105305591 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1741A>G (p.Thr581Ala) single nucleotide variant not specified [RCV004308320] Chr7:105614593 [GRCh38]
Chr7:105255040 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.388C>G (p.Pro130Ala) single nucleotide variant not specified [RCV004363725] Chr7:105665256 [GRCh38]
Chr7:105305703 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1579G>A (p.Val527Ile) single nucleotide variant not specified [RCV004184476] Chr7:105614755 [GRCh38]
Chr7:105255202 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.220A>C (p.Ser74Arg) single nucleotide variant not specified [RCV004312254] Chr7:105875842 [GRCh38]
Chr7:105516288 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.607A>G (p.Lys203Glu) single nucleotide variant not specified [RCV004685655] Chr7:105643093 [GRCh38]
Chr7:105283540 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1669A>T (p.Ile557Leu) single nucleotide variant not specified [RCV004191906] Chr7:105614665 [GRCh38]
Chr7:105255112 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh37/hg19 7q22.3(chr7:104787325-105267284)x3 copy number gain not provided [RCV003484697] Chr7:104787325..105267284 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1393G>A (p.Ala465Thr) single nucleotide variant not specified [RCV004421217] Chr7:105624077 [GRCh38]
Chr7:105264524 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1486G>A (p.Val496Ile) single nucleotide variant not specified [RCV004421219] Chr7:105620231 [GRCh38]
Chr7:105260678 [GRCh37]
Chr7:7q22.3		 uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
NM_020725.2(ATXN7L1):c.2348C>G (p.Ser783Trp) single nucleotide variant not specified [RCV004688803] Chr7:105613986 [GRCh38]
Chr7:105254433 [GRCh37]
Chr7:7q22.3		 uncertain significance
NM_020725.2(ATXN7L1):c.1576C>G (p.Pro526Ala) single nucleotide variant not specified [RCV004274880] Chr7:105614758 [GRCh38]
Chr7:105255205 [GRCh37]
Chr7:7q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4880
Count of miRNA genes:1328
Interacting mature miRNAs:1742
Transcripts:ENST00000318724, ENST00000388807, ENST00000419735, ENST00000464874, ENST00000472195, ENST00000472910, ENST00000474433, ENST00000477775, ENST00000478915, ENST00000481880, ENST00000484475, ENST00000485652
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407085315GWAS734291_Hheel bone mineral density QTL GWAS734291 (human)2e-10heel bone mineral densitybone mineral density (CMO:0001226)7105854517105854518Human
406952384GWAS601360_Hparental longevity QTL GWAS601360 (human)0.000008parental longevity7105632229105632230Human
406897355GWAS546331_Hbone density QTL GWAS546331 (human)6e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)7105854517105854518Human
407046607GWAS695583_Hself reported educational attainment QTL GWAS695583 (human)2e-10self reported educational attainment7105701161105701162Human
407215176GWAS864152_Hcalcium measurement QTL GWAS864152 (human)1e-08calcium measurementblood calcium level (CMO:0000502)7105673568105673569Human
406933838GWAS582814_HBMI-adjusted waist-hip ratio QTL GWAS582814 (human)6e-10BMI-adjusted waist-hip ratio7105693996105693997Human
407021714GWAS670690_Hresponse to radiation, lymphedema QTL GWAS670690 (human)6e-08response to radiation, lymphedema7105842196105842201Human
407300055GWAS949031_Hresponse to aromatase inhibitor QTL GWAS949031 (human)0.000003response to aromatase inhibitor7105858521105858522Human
406982934GWAS631910_Hcervical carcinoma QTL GWAS631910 (human)0.000002cervical carcinoma7105691372105691373Human
407041366GWAS690342_Hdental caries QTL GWAS690342 (human)0.0000006dental caries7105633273105633274Human
407089558GWAS738534_Hheel bone mineral density QTL GWAS738534 (human)1e-21heel bone mineral densitybone mineral density (CMO:0001226)7105854517105854518Human
407205648GWAS854624_HPCSK9 protein measurement QTL GWAS854624 (human)8e-08PCSK9 protein measurement7105695251105695252Human
407009371GWAS658347_Hheel bone mineral density QTL GWAS658347 (human)5e-48heel bone mineral densitybone mineral density (CMO:0001226)7105854517105854518Human
407058778GWAS707754_Heosinophil count QTL GWAS707754 (human)4e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)7105673879105673880Human
407093209GWAS742185_Hhair color QTL GWAS742185 (human)3e-14hair color7105776114105776115Human
407101976GWAS750952_Hleukocyte count QTL GWAS750952 (human)1e-08leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)7105637346105637347Human
407131352GWAS780328_Hschizophrenia QTL GWAS780328 (human)0.000005schizophrenia7105670146105670147Human
407109213GWAS758189_Hself reported educational attainment QTL GWAS758189 (human)4e-09self reported educational attainment7105701161105701162Human
406983328GWAS632304_Hcervical carcinoma QTL GWAS632304 (human)0.0000005cervical carcinoma7105691372105691373Human
406977891GWAS626867_Hheel bone mineral density QTL GWAS626867 (human)4e-49heel bone mineral densitybone mineral density (CMO:0001226)7105854517105854518Human
407068582GWAS717558_Hheel bone mineral density QTL GWAS717558 (human)5e-12heel bone mineral densitybone mineral density (CMO:0001226)7105854517105854518Human
406943271GWAS592247_Heosinophil count QTL GWAS592247 (human)7e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)7105673879105673880Human
406986155GWAS635131_Hchronic kidney disease QTL GWAS635131 (human)0.000003chronic kidney disease7105705501105705502Human
407227052GWAS876028_Hbody height QTL GWAS876028 (human)4e-33body height (VT:0001253)body height (CMO:0000106)7105610659105610660Human
407227055GWAS876031_Hbody height QTL GWAS876031 (human)5e-13body height (VT:0001253)body height (CMO:0000106)7105680446105680447Human
407227054GWAS876030_Hbody height QTL GWAS876030 (human)4e-17body height (VT:0001253)body height (CMO:0000106)7105632162105632163Human
406896621GWAS545597_Heducational attainment QTL GWAS545597 (human)4e-10educational attainment7105606374105606375Human
406896622GWAS545598_Heducational attainment QTL GWAS545598 (human)4e-09educational attainment7105634365105634366Human
406918129GWAS567105_Hvenous thromboembolism QTL GWAS567105 (human)0.0000008venous thromboembolism7105862160105862161Human
407100147GWAS749123_Heosinophil count QTL GWAS749123 (human)3e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)7105673879105673880Human
406896625GWAS545601_Heducational attainment QTL GWAS545601 (human)1e-08educational attainment7105655162105655163Human
406896626GWAS545602_Heducational attainment QTL GWAS545602 (human)2e-10educational attainment7105719575105719576Human
407119926GWAS768902_Hhair colour measurement QTL GWAS768902 (human)5e-30hair colour measurementcoat/hair color measurement (CMO:0001808)7105776114105776115Human
406905587GWAS554563_HR-6-hydroxywarfarin measurement QTL GWAS554563 (human)0.000006R-6-hydroxywarfarin measurement7105758590105758591Human
406897973GWAS546949_Heye morphology measurement QTL GWAS546949 (human)0.0000009eye morphology measurementeye morphological measurement (CMO:0003080)7105644232105644233Human
406909685GWAS558661_Hbone density QTL GWAS558661 (human)5e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)7105854517105854518Human
406944372GWAS593348_Heosinophil percentage of leukocytes QTL GWAS593348 (human)1e-11eosinophil percentage of leukocytesblood eosinophil count to total leukocyte count ratio (CMO:0000369)7105673879105673880Human
407053110GWAS702086_Heosinophil count QTL GWAS702086 (human)7e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)7105673879105673880Human
407148344GWAS797320_HAlzheimer disease QTL GWAS797320 (human)0.000001Alzheimer disease7105640741105640742Human
407253115GWAS902091_Hsmoking cessation QTL GWAS902091 (human)0.0000002smoking cessation7105855966105855967Human
406934974GWAS583950_Hheel bone mineral density QTL GWAS583950 (human)7e-55heel bone mineral densitybone mineral density (CMO:0001226)7105854517105854518Human
407110459GWAS759435_Hwaist-hip ratio QTL GWAS759435 (human)5e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)7105693996105693997Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
1204 2435 2788 2246 4961 1724 2348 4 624 1939 465 2269 7284 6452 53 3725 1 850 1740 1614 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001318229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_927411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC055009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP339600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ227169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ431139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ436521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000318724   ⟹   ENSP00000326344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,760,373 - 105,876,582 (-)Ensembl
Ensembl Acc Id: ENST00000419735   ⟹   ENSP00000410759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,604,772 - 105,876,599 (-)Ensembl
Ensembl Acc Id: ENST00000464874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,875,091 - 105,876,574 (-)Ensembl
Ensembl Acc Id: ENST00000472195   ⟹   ENSP00000419566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,613,733 - 105,691,637 (-)Ensembl
Ensembl Acc Id: ENST00000472910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,620,233 - 105,678,023 (-)Ensembl
Ensembl Acc Id: ENST00000474433   ⟹   ENSP00000420483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,613,474 - 105,678,018 (-)Ensembl
Ensembl Acc Id: ENST00000477775   ⟹   ENSP00000418476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,607,771 - 105,679,162 (-)Ensembl
Ensembl Acc Id: ENST00000478915   ⟹   ENSP00000418679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,760,554 - 105,876,477 (-)Ensembl
Ensembl Acc Id: ENST00000481880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,788,123 - 105,876,592 (-)Ensembl
Ensembl Acc Id: ENST00000484475   ⟹   ENSP00000418900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,613,474 - 105,624,266 (-)Ensembl
Ensembl Acc Id: ENST00000485652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7105,638,369 - 105,679,206 (-)Ensembl
RefSeq Acc Id: NM_001318229   ⟹   NP_001305158
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,613,474 - 105,679,155 (-)NCBI
CHM1_17105,187,257 - 105,252,954 (-)NCBI
T2T-CHM13v2.07106,927,660 - 106,993,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001385596   ⟹   NP_001372525
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,604,772 - 105,876,599 (-)NCBI
T2T-CHM13v2.07106,918,950 - 107,191,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020725   ⟹   NP_065776
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,604,772 - 105,876,599 (-)NCBI
HuRef799,603,460 - 99,874,805 (-)NCBI
CHM1_17105,178,559 - 105,450,676 (-)NCBI
T2T-CHM13v2.07106,918,950 - 107,191,449 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138495   ⟹   NP_612504
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,604,772 - 105,679,155 (-)NCBI
HuRef799,603,460 - 99,874,805 (-)NCBI
CHM1_17105,178,559 - 105,252,915 (-)NCBI
T2T-CHM13v2.07106,918,950 - 106,993,312 (-)NCBI
Sequence:
RefSeq Acc Id: NM_152749   ⟹   NP_689962
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,760,190 - 105,876,585 (-)NCBI
Build 367105,188,055 - 105,304,264 (-)NCBI Archive
HuRef799,603,460 - 99,874,805 (-)NCBI
CHM1_17105,334,230 - 105,450,676 (-)NCBI
T2T-CHM13v2.07107,074,734 - 107,191,435 (-)NCBI
Sequence:
RefSeq Acc Id: NP_689962   ⟸   NM_152749
- Peptide Label: isoform 2
- UniProtKB: B3KTF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_065776   ⟸   NM_020725
- Peptide Label: isoform 1
- UniProtKB: Q9ULK2 (UniProtKB/Swiss-Prot),   Q8N2T0 (UniProtKB/Swiss-Prot),   B4DTS1 (UniProtKB/Swiss-Prot),   A4D0Q2 (UniProtKB/Swiss-Prot),   C9K0V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_612504   ⟸   NM_138495
- Peptide Label: isoform 3
- UniProtKB: C9K0V9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305158   ⟸   NM_001318229
- Peptide Label: isoform 4
- UniProtKB: C9K0V9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000418476   ⟸   ENST00000477775
Ensembl Acc Id: ENSP00000418679   ⟸   ENST00000478915
Ensembl Acc Id: ENSP00000410759   ⟸   ENST00000419735
Ensembl Acc Id: ENSP00000418900   ⟸   ENST00000484475
Ensembl Acc Id: ENSP00000419566   ⟸   ENST00000472195
Ensembl Acc Id: ENSP00000420483   ⟸   ENST00000474433
Ensembl Acc Id: ENSP00000326344   ⟸   ENST00000318724
RefSeq Acc Id: NP_001372525   ⟸   NM_001385596
- Peptide Label: isoform 5
- UniProtKB: C9K0V9 (UniProtKB/TrEMBL)
Protein Domains
SCA7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULK2-F1-model_v2 AlphaFold Q9ULK2 1-861 view protein structure

Promoters
RGD ID:7211595
Promoter ID:EPDNEW_H11543
Type:initiation region
Name:ATXN7L1_2
Description:ataxin 7 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11544  EPDNEW_H11545  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,678,033 - 105,678,093EPDNEW
RGD ID:7211597
Promoter ID:EPDNEW_H11544
Type:initiation region
Name:ATXN7L1_1
Description:ataxin 7 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11543  EPDNEW_H11545  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,876,491 - 105,876,551EPDNEW
RGD ID:7211599
Promoter ID:EPDNEW_H11545
Type:initiation region
Name:ATXN7L1_3
Description:ataxin 7 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11543  EPDNEW_H11544  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387105,877,384 - 105,877,444EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22210 AgrOrtholog
COSMIC ATXN7L1 COSMIC
Ensembl Genes ENSG00000146776 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318724 ENTREZGENE
  ENST00000318724.8 UniProtKB/Swiss-Prot
  ENST00000419735 ENTREZGENE
  ENST00000419735.8 UniProtKB/Swiss-Prot
  ENST00000472195 ENTREZGENE
  ENST00000472195.1 UniProtKB/TrEMBL
  ENST00000474433.5 UniProtKB/TrEMBL
  ENST00000477775 ENTREZGENE
  ENST00000477775.5 UniProtKB/Swiss-Prot
  ENST00000478915.1 UniProtKB/TrEMBL
  ENST00000484475.5 UniProtKB/TrEMBL
Gene3D-CATH 6.10.140.670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000146776 GTEx
HGNC ID HGNC:22210 ENTREZGENE
Human Proteome Map ATXN7L1 Human Proteome Map
InterPro Ataxin-7-like_regulator UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCA7_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:222255 UniProtKB/Swiss-Prot
NCBI Gene ATXN7L1 ENTREZGENE
PANTHER ATAXIN 7 RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATAXIN-7-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SCA7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884892 PharmGKB
PROSITE SCA7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D0Q2 ENTREZGENE
  AT7L1_HUMAN UniProtKB/Swiss-Prot
  B3KTF3 ENTREZGENE, UniProtKB/TrEMBL
  B4DTS1 ENTREZGENE
  C9IZF2_HUMAN UniProtKB/TrEMBL
  C9K0V9 ENTREZGENE, UniProtKB/TrEMBL
  F8WDE7_HUMAN UniProtKB/TrEMBL
  H0Y8A2_HUMAN UniProtKB/TrEMBL
  Q8N2T0 ENTREZGENE
  Q8N7W9_HUMAN UniProtKB/TrEMBL
  Q9BTQ8_HUMAN UniProtKB/TrEMBL
  Q9ULK2 ENTREZGENE
UniProt Secondary A4D0Q2 UniProtKB/Swiss-Prot
  B4DTS1 UniProtKB/Swiss-Prot
  Q8N2T0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 ATXN7L1  ataxin 7 like 1    ataxin 7-like 1  Symbol and/or name change 5135510 APPROVED
2015-05-05 ATXN7L1  ataxin 7-like 1  ATXN7L1  ataxin 7-like 1  Data merged from RGD:1349210 737654 PROVISIONAL
2014-09-17 ATXN7L1  ataxin 7-like 1  ATXN7L4  ataxin 7-like 4  Symbol and/or name change 5135510 APPROVED