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BTBD6

gene
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Also known as BDPL

Summary

BTBD6 (BTB domain containing 6, HGNC:19897) is a protein-coding gene on chromosome 14q32.33, encoding BTB/POZ domain-containing protein 6 (Q96KE9). Adapter protein for the cul3 E3 ubiquitin-protein ligase complex.

Predicted to be involved in neurogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol.

Source: NCBI Gene 90135 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 4 total — 1 pathogenic
  • MANE Select transcript: NM_001387567

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:19897
Approved symbolBTBD6
NameBTB domain containing 6
Location14q32.33
Locus typegene with protein product
StatusApproved
AliasesBDPL
Ensembl geneENSG00000184887
Ensembl biotypeprotein_coding
Entrez90135

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000392553, ENST00000392554, ENST00000463376, ENST00000536364, ENST00000957313, ENST00000957314, ENST00000957315

RefSeq mRNA: 2 — MANE Select: NM_001387567 NM_001387567, NM_033271

CCDS: CCDS10002, CCDS91955

Canonical transcript exons

ENST00000392554 — 4 exons

ExonStartEnd
ENSE00001296252105249360105249478
ENSE00001512363105249640105251093
ENSE00002327172105248533105249085
ENSE00003606718105249157105249247

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.6797 / max 84.2220, expressed in 1700 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1418806.52761676
1418813.15211427

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
spermCL:000001998.64gold quality
pancreatic ductal cellCL:000207997.78gold quality
parotid glandUBERON:000183197.56gold quality
ileal mucosaUBERON:000033197.43gold quality
vastus lateralisUBERON:000137997.20gold quality
quadriceps femorisUBERON:000137797.17gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450296.81gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451196.80gold quality
body of tongueUBERON:001187696.68gold quality
biceps brachiiUBERON:000150796.64gold quality
hindlimb stylopod muscleUBERON:000425296.53gold quality
endothelial cellCL:000011596.30gold quality
skeletal muscle tissueUBERON:000113496.09gold quality
right testisUBERON:000453496.07gold quality
upper arm skinUBERON:000426395.92gold quality
tibialis anteriorUBERON:000138595.82gold quality
left testisUBERON:000453395.77gold quality
left ventricle myocardiumUBERON:000656695.68gold quality
gastrocnemiusUBERON:000138895.56gold quality
muscle of legUBERON:000138395.54gold quality
right frontal lobeUBERON:000281095.35gold quality
anterior cingulate cortexUBERON:000983595.30gold quality
apex of heartUBERON:000209895.28gold quality
tongueUBERON:000172395.08gold quality
muscle tissueUBERON:000238595.08gold quality
deltoidUBERON:000147694.92gold quality
gingival epitheliumUBERON:000194994.89gold quality
adipose tissueUBERON:000101394.85gold quality
prefrontal cortexUBERON:000045194.74gold quality
amygdalaUBERON:000187694.63gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.64

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NEUROG1

Literature-anchored findings (GeneRIF, showing 1)

  • Btbd6a promotes the relocation of Plzf from nucleus to cytoplasm and targets Plzf for ubiquitination and degradation (PMID:20080956)

Cross-species orthologs

7 orthologs

OrganismSymbolGene ID
danio_reriobtbd6bENSDARG00000032369
mus_musculusBtbd6ENSMUSG00000002803
rattus_norvegicusBtbd6ENSRNOG00000014693
drosophila_melanogasterBTBD9FBGN0030228
drosophila_melanogasterCG17068FBGN0031098
drosophila_melanogasterluteFBGN0262871
caenorhabditis_elegansWBGENE00015463

Paralogs (11): BTBD1 (ENSG00000064726), ABTB1 (ENSG00000114626), SPOP (ENSG00000121067), KBTBD4 (ENSG00000123444), BTBD3 (ENSG00000132640), BTBD2 (ENSG00000133243), SPOPL (ENSG00000144228), ABTB3 (ENSG00000151136), ABTB2 (ENSG00000166016), KLHL11 (ENSG00000178502), BTBD9 (ENSG00000183826)

Protein

Protein identifiers

BTB/POZ domain-containing protein 6 — Q96KE9 (reviewed: Q96KE9)

Alternative names: Lens BTB domain protein

All UniProt accessions (3): A0A384NYR4, A0A8C8KHP4, Q96KE9

UniProt curated annotations — full annotation on UniProt →

Function. Adapter protein for the cul3 E3 ubiquitin-protein ligase complex. Involved in late neuronal development and muscle formation.

Subcellular location. Cytoplasm.

Tissue specificity. Expressed in lens.

Isoforms (3)

UniProt IDNamesCanonical?
Q96KE9-31yes
Q96KE9-12
Q96KE9-23

RefSeq proteins (2): NP_001374496, NP_150374 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000210BTB/POZ_domDomain
IPR011333SKP1/BTB/POZ_sfHomologous_superfamily
IPR011705BACKDomain
IPR012983PHRDomain
IPR038648PHR_sfHomologous_superfamily
IPR049738BTB_POZ_BTBD6Domain

Pfam: PF00651, PF07707, PF08005

UniProt features (20 total): helix 5, strand 3, sequence conflict 2, region of interest 2, compositionally biased region 2, splice variant 2, signal peptide 1, chain 1, turn 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
2VKPX-RAY DIFFRACTION1.9

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q96KE9-F182.700.73

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

IDPathway
R-HSA-8951664Neddylation
R-HSA-983168Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218Adaptive Immune System
R-HSA-168256Immune System
R-HSA-392499Metabolism of proteins
R-HSA-597592Post-translational protein modification
R-HSA-983169Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 69 (showing top): HORIUCHI_WTAP_TARGETS_DN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_NEUROGENESIS, chr14q32, DODD_NASOPHARYNGEAL_CARCINOMA_DN, MEISSNER_NPC_HCP_WITH_H3K4ME2, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, KRIEG_HYPOXIA_NOT_VIA_KDM3A, VANOEVELEN_MYOGENESIS_SIN3A_TARGETS, REACTOME_NEDDYLATION, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_12H_DN, GSE13547_CTRL_VS_ANTI_IGM_STIM_BCELL_2H_DN, CBX7_TARGET_GENES

GO Biological Process (1): neurogenesis (GO:0022008)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
Post-translational protein modification1
Class I MHC mediated antigen processing & presentation1
Immune System1
Metabolism of proteins1
Adaptive Immune System1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure2
nervous system development1
cell differentiation1
binding1
cytoplasm1
intracellular anatomical structure1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
BTBD6CUL3Q13618526
BTBD6TEX22C9J3V5507
BTBD6ZDHHC11BP0C7U3477
BTBD6TMEM170AQ8WVE7445
BTBD6FUCA1P04066418
BTBD6NUDT14O95848395
BTBD6KRABD2Q6ZNG9368
BTBD6RHBDD3Q9Y3P4362
BTBD6ZBTB44Q8NCP5360
BTBD6NAPEPLDQ6IQ20353
BTBD6NUDT22Q9BRQ3351
BTBD6PGPEP1Q9NXJ5349
BTBD6KRTCAP2Q8N6L1349
BTBD6HTR4Q13639348
BTBD6GOLGB1Q14789346

IntAct

9 interactions, top by confidence:

ABTypeScore
DAXXBTBD6psi-mi:“MI:0915”(physical association)0.550
SEC23BSEC16Apsi-mi:“MI:0914”(association)0.530
BTBD6FXR1psi-mi:“MI:0915”(physical association)0.370
CLTACLTBpsi-mi:“MI:0914”(association)0.350
HNRNPA2B1CLTBpsi-mi:“MI:0914”(association)0.350
FAM120AGTPBP10psi-mi:“MI:0914”(association)0.350
BTBD6UBBpsi-mi:“MI:0914”(association)0.350

BioGRID (26): BTBD6 (Affinity Capture-RNA), BTBD6 (Affinity Capture-RNA), UBB (Affinity Capture-MS), PPP2R5D (Affinity Capture-MS), BTBD6 (Affinity Capture-Western), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Two-hybrid), BTBD6 (Affinity Capture-MS), UBB (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K344, A0A1B8YAB1, A2ALK8, A4IFG2, A9JRD8, B1H285, B3M1E1, B4GZ20, B4HJC0, B4KA23, B4QVW6, F7ASZ0, M3XQV7, P26045, P32871, P42336, P42337, P58544, P58545, Q08CL3, Q0V9W6, Q0VD31, Q16832, Q29B63, Q2LE78, Q3UQV5, Q5PQR3, Q5RAG3, Q5RGQ2, Q5TZE1, Q5ZIJ9, Q62371, Q62915, Q7K0L4, Q7Z7L7, Q8BH70, Q8BTI9, Q8C726, Q8K2J9, Q8LEV3

Diamond homologs: A1L4W5, B7U179, B9DHT4, E9Q4F2, F7ASZ0, G5E8B9, M3XQV7, O22286, O43791, O94889, O95199, O95625, P17789, P28575, P42282, P57790, P58545, Q0IHH9, Q0V9W6, Q0VCW1, Q14145, Q1EBV6, Q2LE78, Q2M2N2, Q54D84, Q5BL35, Q5NVK7, Q5R774, Q5RCZ7, Q5TC79, Q5TZE1, Q684M4, Q6DEL7, Q6IQ16, Q6NRH0, Q6P8B3, Q6YCH2, Q6ZWS8, Q7T330, Q7ZX06

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

4 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance2
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
2579167GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1Pathogenic

SpliceAI

590 predictions. Top by Δscore:

VariantEffectΔscore
14:105249358:A:AGacceptor_gain1.0000
14:105249359:G:GAacceptor_gain1.0000
14:105249359:GT:Gacceptor_gain1.0000
14:105249474:TTAAA:Tdonor_gain1.0000
14:105249475:TAAA:Tdonor_gain1.0000
14:105249475:TAAAG:Tdonor_loss1.0000
14:105249476:AAA:Adonor_gain1.0000
14:105249476:AAAG:Adonor_loss1.0000
14:105249477:AA:Adonor_gain1.0000
14:105249477:AAGTA:Adonor_loss1.0000
14:105249478:AGTAA:Adonor_loss1.0000
14:105249479:G:GGdonor_gain1.0000
14:105249479:GTAA:Gdonor_loss1.0000
14:105249480:TAAGT:Tdonor_loss1.0000
14:105248556:GGCGG:Gdonor_gain0.9900
14:105248557:GCGG:Gdonor_gain0.9900
14:105248557:GCGGG:Gdonor_gain0.9900
14:105248558:C:Tdonor_gain0.9900
14:105248559:GG:Gdonor_gain0.9900
14:105248560:GG:Gdonor_gain0.9900
14:105248561:G:GGdonor_gain0.9900
14:105248951:G:GTdonor_gain0.9900
14:105249043:A:Tdonor_gain0.9900
14:105249151:TTGCA:Tacceptor_loss0.9900
14:105249152:TGCAG:Tacceptor_loss0.9900
14:105249153:GCAGG:Gacceptor_loss0.9900
14:105249154:CA:Cacceptor_loss0.9900
14:105249155:A:ACacceptor_loss0.9900
14:105249155:A:AGacceptor_gain0.9900
14:105249155:AG:Aacceptor_gain0.9900

AlphaMissense

3488 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
14:105249201:T:CF87S1.000
14:105249367:T:CL105S1.000
14:105249378:A:CS109R1.000
14:105249380:C:AS109R1.000
14:105249380:C:GS109R1.000
14:105249387:T:CF112L1.000
14:105249389:C:AF112L1.000
14:105249389:C:GF112L1.000
14:105249693:T:CL160P1.000
14:105249701:G:CA163P1.000
14:105249702:C:AA163D1.000
14:105249707:A:GK165E1.000
14:105249709:G:CK165N1.000
14:105249709:G:TK165N1.000
14:105249710:T:CY166H1.000
14:105249711:A:GY166C1.000
14:105249738:G:AC175Y1.000
14:105249739:T:GC175W1.000
14:105249789:T:CL192P1.000
14:105249806:T:AF198I1.000
14:105249806:T:CF198L1.000
14:105249806:T:GF198V1.000
14:105249807:T:CF198S1.000
14:105249807:T:GF198C1.000
14:105249808:T:AF198L1.000
14:105249808:T:GF198L1.000
14:105249822:T:CL203P1.000
14:105249977:T:AW255R1.000
14:105249977:T:CW255R1.000
14:105250235:T:CF341L1.000

dbSNP variants (sampled 300 via entrez): RS1000250251 (14:105246703 C>A), RS1001319076 (14:105248632 T>C), RS1001380786 (14:105248824 C>T), RS1003041611 (14:105247993 C>A), RS1003271366 (14:105251329 G>A), RS1003323060 (14:105246784 G>A,C), RS1003728849 (14:105248253 G>A,C), RS1004214884 (14:105249108 CCGCGCCCGCG>C,CCGCGCCCGCGCGCGCCCGCG), RS1004833650 (14:105246748 C>G,T), RS1005223628 (14:105251494 C>A,T), RS1005330944 (14:105246914 G>A,C), RS1006178636 (14:105250122 T>C), RS1007842315 (14:105249061 G>A,C), RS1008107857 (14:105247924 G>A), RS1008177646 (14:105248347 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D065886Neurodevelopmental DisordersF03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, affects cotreatment, increases abundance2
pirinixic acidaffects binding, decreases expression, increases activity1
cobaltous chloridedecreases expression1
manganese chloridedecreases expression, increases abundance, affects cotreatment1
perfluorooctane sulfonic aciddecreases expression1
ICG 001increases expression1
bisphenol Saffects cotreatment, decreases expression1
Sunitinibincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicaffects cotreatment, decreases expression, increases abundance1
Atrazinedecreases expression1
Benzo(a)pyreneincreases methylation1
Carbamazepineaffects expression1
Dexamethasonedecreases expression, affects cotreatment1
Doxorubicinincreases expression1
Indomethacinaffects cotreatment, decreases expression1
Manganeseincreases abundance, affects cotreatment, decreases expression1
Methyl Methanesulfonateincreases expression1
Smokedecreases expression1
Thiramdecreases expression1
Valproic Aciddecreases expression1
1-Methyl-3-isobutylxanthineaffects cotreatment, decreases expression1
Aflatoxin B1increases methylation1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

202 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT04586348PHASE4UNKNOWNPrenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115PHASE4UNKNOWNDouble-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102PHASE3COMPLETEDDexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079PHASE3COMPLETEDStudy of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480PHASE3RECRUITINGReducing Missed Appointments
NCT07377032PHASE3RECRUITINGTAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959PHASE2COMPLETEDSulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348PHASE2RECRUITINGSertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372PHASE2COMPLETEDSafety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191PHASE1COMPLETEDNeuroModulation Technique Treatment of Autism
NCT04475848PHASE1COMPLETEDA Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398PHASE1COMPLETEDIAMA-6 Oral Dose Study in Healthy Adults
NCT01783041PHASE2/PHASE3COMPLETEDEffect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385PHASE2/PHASE3RECRUITINGFetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098EARLY_PHASE1NOT_YET_RECRUITINGCentral Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783Not specifiedCOMPLETEDCYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504Not specifiedRECRUITINGStudying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784Not specifiedUNKNOWNHigh Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791Not specifiedCOMPLETEDNutrition and Pregnancy Intervention Study
NCT01942525Not specifiedUNKNOWNInfluence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170Not specifiedCOMPLETEDEtiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649Not specifiedACTIVE_NOT_RECRUITINGEnhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191Not specifiedTERMINATEDBiomarkers, Neurodevelopment and Preterm Infants
NCT02690675Not specifiedCOMPLETEDIron Supplement Effect on Child Development
NCT02694003Not specifiedCOMPLETEDBetter Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894Not specifiedCOMPLETEDFamily Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674Not specifiedUNKNOWNGood Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157Not specifiedCOMPLETEDAnalyzing Retinal Microanatomy in ROP
NCT02898298Not specifiedCOMPLETEDPositive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780Not specifiedUNKNOWNIntroduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293Not specifiedCOMPLETEDn-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644Not specifiedCOMPLETEDImproving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991Not specifiedUNKNOWNEarly Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189Not specifiedTERMINATEDEffect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028Not specifiedCOMPLETEDDevelopmental Origins of Mental Health Disorders
NCT03148782Not specifiedCOMPLETEDBrain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104Not specifiedCOMPLETEDNeurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375Not specifiedRECRUITINGSQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928Not specifiedCOMPLETEDClinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489Not specifiedUNKNOWNStudy for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot